Fibrocystin
From Wikipedia, the free encyclopedia
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polycystic kidney and hepatic disease 1 (autosomal recessive)
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| Identifiers | |
| Symbol | PKHD1 |
| Alt. Symbols | TIGM1 |
| Entrez | 5314 |
| HUGO | 9016 |
| OMIM | 606702 |
| RefSeq | NM_138694 |
| UniProt | Q8TCZ9 |
| Other data | |
| Locus | Chr. 6 p21.2-p12 |
Fibrocystin is a large, receptor-like protein that is thought to be involved in the tubulogenesis and/or maintenance of duct-lumen architecture of epithelium.[1]
[edit] Pathology
Mutations of its encoding gene can cause autosomal recessive polycystic kidney disease.
[edit] References
- ^ Zhang M, Mai W, Li C, Cho S, Hao C, Moeckel G, Zhao R, Kim I, Wang J, Xiong H, Wang H, Sato Y, Wu Y, Nakanuma Y, Lilova M, Pei Y, Harris R, Li S, Coffey R, Sun L, Wu D, Chen X, Breyer M, Zhao Z, McKanna J, Wu G (2004). "PKHD1 protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in renal epithelial cells.". Proc Natl Acad Sci U S A 101 (8): 2311–6. doi:. PMID 14983006.
[edit] External links
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