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  4. Recombinant Human Insulin-like growth factor-binding protein complex acid labile subunit (IGFALS)

Recombinant Human Insulin-like growth factor-binding protein complex acid labile subunit (IGFALS)

  • 中文名稱：
    人IGFALS重組蛋白
  • 貨號：
    CSB-YP011094HU
  • 規格：
  • 來源：
    Yeast
  • 其他：
  • 中文名稱：
    人IGFALS重組蛋白
  • 貨號：
    CSB-EP011094HU
  • 規格：
  • 來源：
    E.coli
  • 其他：
  • 中文名稱：
    人IGFALS重組蛋白
  • 貨號：
    CSB-EP011094HU-B
  • 規格：
  • 來源：
    E.coli
  • 共軛：
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他：
  • 中文名稱：
    人IGFALS重組蛋白
  • 貨號：
    CSB-BP011094HU
  • 規格：
  • 來源：
    Baculovirus
  • 其他：
  • 中文名稱：
    人IGFALS重組蛋白
  • 貨號：
    CSB-MP011094HU
  • 規格：
  • 來源：
    Mammalian cell
  • 其他：

產品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
    IGFALS
  • Uniprot No.：
  • 別名：
    IGFALS; ALSInsulin-like growth factor-binding protein complex acid labile subunit; ALS
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長度：
    Full Length of Mature Protein
  • 表達區域：
    28-605
  • 氨基酸序列
    ADP GTPGEAEGPA CPAACVCSYD DDADELSVFC SSRNLTRLPD GVPGGTQALW LDGNNLSSVP PAAFQNLSSL GFLNLQGGQL GSLEPQALLG LENLCHLHLE RNQLRSLALG TFAHTPALAS LGLSNNRLSR LEDGLFEGLG SLWDLNLGWN SLAVLPDAAF RGLGSLRELV LAGNRLAYLQ PALFSGLAEL RELDLSRNAL RAIKANVFVQ LPRLQKLYLD RNLIAAVAPG AFLGLKALRW LDLSHNRVAG LLEDTFPGLL GLRVLRLSHN AIASLRPRTF KDLHFLEELQ LGHNRIRQLA ERSFEGLGQL EVLTLDHNQL QEVKAGAFLG LTNVAVMNLS GNCLRNLPEQ VFRGLGKLHS LHLEGSCLGR IRPHTFTGLS GLRRLFLKDN GLVGIEEQSL WGLAELLELD LTSNQLTHLP HRLFQGLGKL EYLLLSRNRL AELPADALGP LQRAFWLDVS HNRLEALPNS LLAPLGRLRY LSLRNNSLRT FTPQPPGLER LWLEGNPWDC GCPLKALRDF ALQNPSAVPR FVQAICEGDD CQPPAYTYNN ITCASPPEVV GLDLRDLSEA HFAPC
  • 蛋白標簽：
    Tag?type?will?be?determined?during?the?manufacturing?process.
    The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
  • 產品提供形式：
    Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 復溶：
    We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 儲存條件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保質期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 貨期：
    Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事項：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet ：
    Please contact us to get it.

產品評價

相關產品

靶點詳情

  • 功能：
    Involved in protein-protein interactions that result in protein complexes, receptor-ligand binding or cell adhesion.
  • 基因功能參考文獻：
    1. The aim of this study was to evaluate the potential pathogenicity of eleven IGFALS variants. PMID: 27018247
    2. To the known phenotype of ACLSD (i.e. short stature, reduced serum levels of IGF-I and ALS, extremely low serum IGFBP-3 and disturbed ternary complex formation), the study adds reduced birth weight, head circumference and serum IGF-II. PMID: 28249955
    3. Mutations in the IGFALS and low expression level of IGFALS proteins lead to growth and development retardation. [Review] PMID: 26704943
    4. A novel homozygous mutation in IGFALS, c.380T>C (p.L127P), was identified in two siblings of a consanguineous family. PMID: 23488611
    5. Heterozygous IGFALS gene variants could be responsible for short stature in a subset of idiopathic short stature children with diminished levels of IGF-1, IGFBP-3 and ALS. PMID: 24335034
    6. These gene dosage effects demonstrate that one functional IGFALS allele is insufficient to maintain normal ALS levels, endocrine IGF-I action, full growth potential, muscle size, and periosteal expansion. PMID: 24423360
    7. functional analysis supported a tumor-suppressive function for IGFALS in vitro. PMID: 22689435
    8. Heterozygous STAT5B mutations, with or without heterozygous IGFALS defects, may be associated with growth hormone insensitivity. PMID: 22678306
    9. low circulating IGF-I levels due to Acid-Labile Subunit deficiency in adulthood are not associated with early development of atherosclerosis and impaired heart function. PMID: 21664162
    10. D440N mutation in ALS generates a hyperglycosylated form with impaired secretion and complex formation, potentially leading to dysregulation of endocrine IGF, thus contributing to growth retardation PMID: 21177759
    11. We describe that the human placenta expresses the mRNA and the protein for ALS, and we observed an increase in ALS mRNA expression and protein content in small compared with appropriate for gestational age placentas. PMID: 20943791
    12. Findings suggest that common genetic variation in the ALS gene is not related to IGF-I levels and mammographic density. PMID: 20155489
    13. Heterozygosity for IGFALS mutations results in approximately 1.0SD height loss compared to wild type. PMID: 20591980
    14. serum acid labile subunit levels were elevated in girls with central precocious puberty and decreased significantly during the first year of GnRH analog therapy PMID: 12364447
    15. Inactivation of the IGFALS gene caused delayed onset of puberty in 17 year old boy PMID: 14762184
    16. Key role of ALS in regulating transendothelial IGF transport. PMID: 15126567
    17. A modest reduction in post-natal growth in the null ALS mice and in the ALS-deficient patients was observed PMID: 16114275
    18. haploinsufficiency of the IGFALS gene has no discernible clinical effects PMID: 17726072
    19. Primary ALS deficiency due to IGFALS mutations should be considered as a possible cause of postnatal growth deficit in IGF-I-deficient patients in the absence of GH deficiency or insensitivity. PMID: 18303074
    20. IGFALS sequence variants are unlikely to be a common association with pubertal delay in children with constitutional delay of groth and puberty. PMID: 18362293
    21. The clinical presentation of homozygous ALS mutations may, besides short stature, include microcephaly. PMID: 18463107
    22. 14 different mutations of human IGFALS gene have been identified in 17 patients, suggesting that ALS deficiency may be prevalent in a subset of patients with very low serum levels of IGF-I & IGFBP-3 that remain low upon growth hormone stimulation[review] PMID: 19729943

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  • 相關疾病：
    Acid-labile subunit deficiency (ACLSD)
  • 亞細胞定位：
    Secreted, extracellular space.
  • 組織特異性：
    Plasma.
  • 數據庫鏈接：

    HGNC: 5468

    OMIM: 601489

    KEGG: hsa:3483

    STRING: 9606.ENSP00000416683

    UniGene: Hs.839



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