Fibrocystin
(Redirected from PKHD1)
| Fibrocystin | |
|---|---|
| Identifiers | |
| Symbol | Fibrocystin |
| InterPro | IPR029927 |
| Membranome | 632 |
| polycystic kidney and hepatic disease 1 (autosomal recessive) | |
|---|---|
| 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] FPC associates with the primary cilia of epithelial cells and co-localizes with the Pkd2 gene product polycystin-2 (PC2), suggesting that these two proteins may function in a common molecular pathway.
Pathology
Mutations of its encoding gene (chromosomal locus 6p12.2) can cause autosomal recessive polycystic kidney disease.
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 USA. 101 (8): 2311–6. doi:10.1073/pnas.0400073101. PMC 356947. PMID 14983006.
External links
- GeneReviews/NIH/NCBI/UW entry on Polycystic Kidney Disease, Autosomal Recessive
- fibrocystin+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
 | This article on a gene on human chromosome 6 is a stub. You can help Wikipedia by expanding it. |