Fibrocystin

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)

Ciliary proteins

Nephrocystin	NPHP1 INVS NPHP3 NPHP4 IQCB1 CEP290 GLIS2 RPGRIP1L

Basal body	BBsome BBS1 BBS2 BBS4 BBS5 BBS7 TTC8 BBS9 chaperone MKKS BBS10 BBS12 Other ARL6 TRIM32 ALMS1 CC2D2A CEP290 MKS1 RPGRIP1L OFD1 AHI1 INVS NPHP4 NEK8 NPHP1

Cilia	connecting cilia LCA5 RP1 RPGR RPGRIP1 TULP1 primary cilia ARL13B INPP5E IQCB1 PKHD1 PKD1 PKD2 TMEM67

Dynein	outer dynein arms DNAH5 DNAI2 DNAL1 axoneme DNAH11 DNAI1

Radial spokes	RSPH1 RSPH3 RSPH4A RSPH6A RSPH9 RSPH10B

Other	cytoplasm KTU nucleus GLIS2 intraflagellar transport IFT80 other AHI1 ARL13B BRCC3 INPP5E KIF3A LRRC50 SDCCAG8 TMEM216 TXNDC3

see also: ciliopathy

This article is issued from Wikipedia - version of the 5/27/2016. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.