在线日韩日本国产亚洲丨少妇伦子伦情品无吗丨欧美性猛交xxxx免费看蜜桃丨精品人妻系列无码一区二区三区丨亚洲精品无码不卡在线播放

Your Good Partner in Biology Research

ABCD1 Antibody

  • 中文名稱:
    ABCD1兔多克隆抗體
  • 貨號:
    CSB-PA214656
  • 規(guī)格:
    ¥2024
  • 圖片:
    • Western blot analysis of extracts from Jurkat cells, using ABCD1 antibody.
  • 其他:

產(chǎn)品詳情

  • 產(chǎn)品名稱:
    Rabbit anti-Homo sapiens (Human) ABCD1 Polyclonal antibody
  • Uniprot No.:
  • 基因名:
  • 別名:
    ABCD1; ALD; ATP-binding cassette sub-family D member 1; Adrenoleukodystrophy protein; ALDP
  • 宿主:
    Rabbit
  • 反應(yīng)種屬:
    Human
  • 免疫原:
    Synthesized peptide derived from internal of Human ABCD1.
  • 免疫原種屬:
    Homo sapiens (Human)
  • 克隆類型:
    Polyclonal
  • 純化方式:
    The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
  • 濃度:
    It differs from different batches. Please contact us to confirm it.
  • 產(chǎn)品提供形式:
    Liquid
  • 應(yīng)用范圍:
    ELISA,WB
  • 推薦稀釋比:
    Application Recommended Dilution
    WB 1:500-1:3000
  • Protocols:
  • 儲存條件:
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 貨期:
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
  • 用途:
    For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產(chǎn)品評價

靶點詳情

  • 功能:
    ATP-dependent transporter of the ATP-binding cassette (ABC) family involved in the transport of very long chain fatty acid (VLCFA)-CoA from the cytosol to the peroxisome lumen. Coupled to the ATP-dependent transporter activity has also a fatty acyl-CoA thioesterase activity (ACOT) and hydrolyzes VLCFA-CoA into VLCFA prior their ATP-dependent transport into peroxisomes, the ACOT activity is essential during this transport process. Thus, plays a role in regulation of VLCFAs and energy metabolism namely, in the degradation and biosynthesis of fatty acids by beta-oxidation, mitochondrial function and microsomal fatty acid elongation. Involved in several processes; namely, controls the active myelination phase by negatively regulating the microsomal fatty acid elongation activity and may also play a role in axon and myelin maintenance. Controls also the cellular response to oxidative stress by regulating mitochondrial functions such as mitochondrial oxidative phosphorylation and depolarization. And finally controls the inflammatory response by positively regulating peroxisomal beta-oxidation of VLCFAs.
  • 基因功能參考文獻(xiàn):
    1. a novel heterozygous mutation IVS4+2T>A (c.1393+2T>A) of the ABCD1 gene are associated with different clinical phenotypes in a family with adrenoleukodystrophy. PMID: 28601575
    2. Expression of human ABCD1 in oligodendrocytes rescued apoptosis in the abcd1 mutant. PMID: 28911205
    3. In X-linked adrenoleukodystrophy, lack of ABCD1 function causes increased capillary flow heterogeneity in asymptomatic hemizygotes predominantly in the white matter regions and developmental stages with the highest probability for conversion to cerebral disease. PMID: 29136088
    4. To assist in the evaluation process, the New York Newborn Screening Program also routinely performs Sanger sequencing to determine if there are mutations in the ABCD1 gene. PMID: 27337030
    5. ABCD1 and ABCD2 are involved in the transport of long and very long chain fatty acids (VLCFA) or their CoA-derivatives into peroxisomes with different substrate specificities, while ABCD3 is involved in the transport of branched chain acyl-CoA into peroxisomes.ABCD4 is deduced to take part in the transport of vitamin B12 from lysosomes into the cytosol. PMID: 27766264
    6. This study showed that the mutations of were detected in SPG11, ATL1, NIPA1, and ABCD1 in patient with hereditary spastic paraplegia. PMID: 27084228
    7. Phenotypic variability in a Tunisian family with X-linked adrenoleukodystrophy caused by the p.Gln316Pro novel mutation PMID: 26686776
    8. CCALD is the most common phenotype (64%) in our Chinese patients with X-ALD. Eight novel mutations in the ABCD1 gene identified are disease-causing mutations. PMID: 26454440
    9. The current study demonstrates that a single splicing mutation affects the ABCD1 transcripts and the ALDP protein function. PMID: 25835712
    10. both BCAP31 and ABCD1 were associated with hepatic cholestasis and death before 1 year. Remarkably, a patient with an isolated deletion at the 3'-end of SLC6A8 had a similar severe phenotype as seen in BCAP31 deficiency PMID: 24597975
    11. Exome sequencing in two brothers with distinct phenotype including congenital language disorder, growth retardation, intellectual disability and urinary and fecal incontinence, identifies missense mutations in ABCD1 and DACH2. PMID: 25234129
    12. As a result of loss of ABCD1, there is pathogenic accumulation of very long chain fatty acids which leads to mitochondrial dysfunction. PMID: 25393703
    13. In the titel. PMID: 25044748
    14. We detected the same mutation of the ABCD1 gene in two unrelated patients with X-linked adrenoleukodystrophy. PMID: 25275259
    15. We describe four unrelated women with a late-onset progressive spastic paraparesis and heterozygous mutations in the ABCD1 gene PMID: 24154795
    16. X-inactivation pattern of the ABCD1 gene is associated with symptomatic status in female X-linked adrenoleukodystrophy carriers. PMID: 24480483
    17. This study unveil unequivocally that cryptic splicing-induced aberrant messenger-RNA carrying an internal frameshift deletion results from an intronic mutation in the ABCD1 gene. PMID: 23835273
    18. Array comparative genomic hybridization analysis suggested that the deletion was a genomic rearrangement in the 90-kb span starting in exon 4 and included ABCD1 PMID: 22994209
    19. Identified 8 mutationsof ABCD1 , including one novel deletion (c.1477_1488+11del23) and 7 known mutations. PMID: 23566833
    20. in contrast to yeast cells, very long-chain acyl-CoA esters are transported into peroxisomes by ABCD1 independently of additional synthetase activity PMID: 23671276
    21. Adrenoleukodystrophy and skewed x chromosome inactivation in favor of the mutatnt ABCD1 allele is associated with symptoms manifestation in heterozygotes from a Chinese pedigree. PMID: 23469258
    22. Identification of novel mutations in ABCD1 in unrelated Argentinean X-linked adrenoleukodystrophy patients PMID: 23300730
    23. Very long chain fatty acid (VLCFA) is beta-oxidized in ABCD1-dependent pathway, but the ABCD1-independent peroxisomal and mitochondrial beta-oxidation pathways significantly contribute to VLCFA beta-oxidation in astrocytes PMID: 23123468
    24. These results indicate that preferential X chromosome inactivation leads to the favored expression of the mutant ABCD1 allele. PMID: 22280810
    25. Single germ line mutation was identified in each index case in ABCD1 gene. Results detected 4 novel mutations (2 missense and 2 deletion/insertion) and 3 novel SNPS. Data observed a variable protein expression in different patients. PMID: 21966424
    26. standardized conformation sensitive gel electrophoresis (CSGE) method to detect mutations in ABCD1 gene in twenty Indian patients with X-ALD. The results were confirmed by sequencing. Genotype-phenotype correlation was also attempted PMID: 21889498
    27. Amongst 489 X-linked adrenoleukodystrophy families, 20 cases in which the ABCD1 mutation was de novo in the index case, indicating that the mutation arose in the maternal germ line. PMID: 21700483
    28. Novel mutation in ATP-binding domain of ABCD1 gene in adrenoleukodystrophy is reported. PMID: 21273699
    29. HsABCD1 and HsABCD2 have distinct substrate specificities PMID: 21145416
    30. Three female patients heterozygous for ABCD1 gene mutation were first reported in China, and a novel mutation, p.H283R, was identified in this X-linked adrenoleukodystrophy family. PMID: 20376793
    31. A family harbors a novel deletion of 1 base pair in exon 8 at nucleotide position 2245 (2245delA) in the ABCD1 gene. PMID: 20042197
    32. ABCD1 downregulation may be involved in human renal tumorigenesis. PMID: 19787628
    33. Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders. PMID: 11992258
    34. Eight novel mutations are described. PMID: 12175782
    35. ALDP facilitates the interaction between peroxisomes and mitochondria, resulting, when ALDP is deficient in X-ALD, in increased VLCFA accumulation PMID: 12509471
    36. Mutations are heterogeneously distributed over functional domains of ALDP and alter peroxisomal transport function. PMID: 12530690
    37. The splice mutation in 5' end of intron 5 leading to abnormal splice in exon 5 and exon 6 appears to be one of the causes of X-linked recessive adrenoleukodystrophy. PMID: 12579499
    38. Six different missense mutations in ALD were identified in seven Japanese families. PMID: 12624723
    39. For the first time, mutations in ABCD1 are identified in Chinese adrenoleukodystrophy patients in the mainland of China. PMID: 14556192
    40. There were no hot spot mutations in ABCD1 gene in China, mutations in gene were found over 70% of patients with ALD and the ABCD1 gene mutations identified revealed no obvious correlation between the type of mutation and phenotype. PMID: 14767898
    41. ABCA1-independent but cytoskeleton-dependent cholesterol removal pathway may help to prevent early atherosclerosis in Tangier disease. PMID: 15001567
    42. Accumulation of very long-chain fatty acids does not affect mitochondrial function in ABCD1 protein deficiency. PMID: 15772093
    43. analysis of the PEX19-binding site of human adrenoleukodystrophy protein PMID: 15781447
    44. Adrenomyeloneuropathy must be considered in the differential diagnosis of spastic paraparesis in men or women. We report an ABCD1 gene mutation in the French-Canadian population, which should lead to the recognition of other cases in the future. PMID: 16018167
    45. over half of the mutations (19/34) were located in exon 1 and exon 6, suggesting possible hot exons PMID: 16087056
    46. Data show that fetus 1 had R617G mutation on his ABCD1 gene and he was an adrenoleukodystrophy hemizygote. Fetus 2 had no P534R mutation on his ABCD1 gene and he was a normal hemizygote. PMID: 16331554
    47. ABCD1 gene mutations were found in 4 cases of X-linked adrenoleukodystrophy with high VLCFAs levels of amniocytes, no mutation was found in other 4 cases with normal VLCFAs levels of amniocytes. PMID: 17285533
    48. mutant ALDPs, which have a mutation in COOH-terminal half of ALDP, including S606L, R617H, & H667D, were degraded by proteasomes after dimerization. region between transmembrane domain 2 and 3 is important for the targeting of ALDP to the peroxisome. PMID: 17542813
    49. This study examined a patient with Adult onset cerebral form of X-linked adrenoleukodystrophy with dementia of frontal lobe type with new L160P mutation in ABCD1 gene. PMID: 17662307
    50. ALDP-encoding mRNA is most abundant in tissues with high energy requirements such as heart, muscle, liver, and the renal and endocrine systems. ALDP selectively occurs in specific cell types of the brain. PMID: 17761426

    顯示更多

    收起更多

  • 相關(guān)疾病:
    Adrenoleukodystrophy (ALD)
  • 亞細(xì)胞定位:
    Peroxisome membrane; Multi-pass membrane protein. Mitochondrion membrane; Multi-pass membrane protein. Lysosome membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein.
  • 蛋白家族:
    ABC transporter superfamily, ABCD family, Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily
  • 數(shù)據(jù)庫鏈接:

    HGNC: 61

    OMIM: 300100

    KEGG: hsa:215

    STRING: 9606.ENSP00000218104

    UniGene: Hs.159546



主站蜘蛛池模板: 永久免费的啪啪网站免费观看| 窝窝午夜理论片影院| 国产v亚洲v天堂a无码| 欧美z0zo人禽交欧美人禽交 | 真实国产乱子伦视频| 日韩精品专区在线影院重磅 | 男人扒开女人双腿猛进视频| 免费两性的视频网站| 色欲综合久久躁天天躁| 久久人妻少妇嫩草av无码专区| 无码人妻精品一区二| 极品粉嫩福利午夜在线播放| 无码一区二区三区av在线播放| 精品少妇无码av无码专区| 免费无码av片在线观看| 亚洲人成网站18禁止大| 草草浮力地址线路①屁屁影院| 国产成人亚洲综合无码精品| 99久久er这里只有精品18| 日本亚欧热亚洲乱色视频| 一区二区三区内射美女毛片 | 黄页网址大全免费观看| 24小时日本在线www免费的 | 亚洲卡1卡2卡新区网站| 18禁无遮挡羞羞污污污污网站| 久久精品国产久精国产| 久久亚洲国产精品成人av秋霞| 少妇饥渴偷公乱av在线观看涩爱| 无码人妻斩一区二区三区| 中文字幕无码乱人伦| 国产精成人品| 免费无码在线播放av| 国产精品日韩欧美一区二区三区| 亚洲国产精品国自产拍av| 国产三级韩国三级日产三级 | 日本黄页网站免费观看| 精品久久久无码中文字幕一丶| 亚洲xxxx做受欧美| 国产无遮挡无码视频免费软件 | 少妇高潮太爽了在线观看欧美| 日本va欧美va欧美va精品|