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TMEM67

TMEM67,全稱為跨膜蛋白67(Transmembrane protein 67),也被稱為Meckelin蛋白。Meckelin蛋白是一種定位于細胞質膜上的跨膜蛋白,是原發性纖毛的重要組成部分,參與纖毛的形成和功能。Meckelin蛋白的功能異常會導致一組被稱為纖毛病的疾病,包括Joubert綜合征、腎單位萎縮和巴德-畢德爾綜合征等。Joubert綜合征是一種罕見的神經系統疾病,患者表現為小腦和腦干畸形,如“磨牙征”,以及不同程度的器官功能障礙。腎單位萎縮是一種遺傳性腎病,導致腎臟囊腫和腎功能衰竭。巴德-畢德爾綜合征是一種多器官疾病,表現為視網膜病變、肥胖、智力障礙和腎功能不全。
研究表明,TMEM67基因突變與多種臨床表型相關。例如,患有Joubert綜合征的個體中,攜帶TMEM67基因突變的患者有更高的肝臟纖維化風險。此外,攜帶TMEM67基因突變的個體更容易出現肝臟和腎臟的病變,需要密切監測肝功能和腎功能。TMEM67基因突變還與視網膜病變和慢性腎臟疾病有關。這些研究表明,TMEM67基因突變與多種器官的病變相關,并且與疾病的嚴重程度和預后有關。目前,針對TMEM67基因突變相關疾病的藥物研發尚處于早期階段,主要集中在基因檢測和基因治療領域。

熱銷產品

TMEM67 Recombinant Monoclonal Antibody (CSB-RA780441A0HU)

驗證數據

CSB-RA780441A0HU

Western Blot
Positive WB detected in: K562 whole cell lysate(30μg), A431 whole cell lysate(30μg), Hela whole cell lysate(30μg), U-251MG whole cell lysate(30μg), HEK293 whole cell lysate(30μg), MCF-7 whole cell lysate(30μg), Rat brain tissue lysate(30μg)
All lanes: Meckelin polymerase beta antibody at 1:1000
Secondary
Goat polyclonal to rabbit IgG at 1/40000 dilution
Predicted band size: 112 kDa
Observed band size: 112, 122 kDa
Exposure time:1min

CSB-RA780441A0HU

Immunofluorescence staining of U-251MG cell with CSB-RA780441A0HU at 1:50, counter-stained with DAPI. The cells were fixed in 4% formaldehyde and blocked in 10% normal Goat Serum. The cells were then incubated with the antibody overnight at 4°C. The secondary antibody was Alexa Fluor 488-congugated AffiniPure Goat Anti-Rabbit IgG(H+L).

CSB-RA780441A0HU

Overlay Peak curve showing 786-O cells stained with CSB-RA780441A0HU (red line) at 1:100. The cells were fixed in 4% formaldehyde and permeated by 0.2% TritonX-100 for 10min. Then 10% normal goat serum to block non-specific protein-protein interactions followed by the antibody (1ug/1*106cells) for 45min at 4℃. The secondary antibody used was FITC-conjugated goat anti-rabbit IgG (H+L) at 1/200 dilution for 35min at 4℃.Control antibody (green line) was Rabbit IgG (1ug/1*106cells) used under the same conditions. Acquisition of >10,000 events was performed.

TMEM67 Antibody (CSB-PA689243LA01HU)

驗證數據

CSB-PA689243LA01HU

Immunohistochemistry of paraffin-embedded human brain tissue using CSB-PA689243LA01HU at dilution of 1:100

CSB-PA689243LA01HU

Immunohistochemistry of paraffin-embedded human small intestine tissue using CSB-PA689243LA01HU at dilution of 1:100

CSB-PA689243LA01HU

Immunofluorescent analysis of HepG2 cells using CSB-PA689243LA01HU at dilution of 1:100 and Alexa Fluor 488-congugated AffiniPure Goat Anti-Rabbit IgG(H+L)

TMEM67 Antibodies

TMEM67 for Homo sapiens (Human)

TMEM67 Proteins

TMEM67 Proteins for Homo sapiens (Human)



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