Fibrocystin

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

  1. ↑ 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.
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.