Fibrocystin

protein
Name=polycystic kidney and hepatic disease 1 (autosomal recessive)
caption=


width=
HGNCid=9016
Symbol=PKHD1
AltSymbols=TIGM1
EntrezGene=5314
OMIM=606702
RefSeq=NM_138694
UniProt=Q8TCZ9
PDB=
ECnumber=
Chromosome=6
Arm=p
Band=21.2
LocusSupplementaryData=-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. [cite journal | author = 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 | title = PKHD1 protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in renal epithelial cells. | journal = Proc Natl Acad Sci U S A | volume = 101 | issue = 8 | pages = 2311–6 | year = 2004 | pmid = 14983006 | url=http://www.pnas.org/cgi/content/full/101/8/2311 | doi = 10.1073/pnas.0400073101]

Pathology

Mutations of its encoding gene can cause autosomal recessive polycystic kidney disease.

References

External links

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