| Fibrocystin | |
|---|---|
| Identifiers | |
| Symbol | Fibrocystin |
| InterPro | IPR029927 |
| Membranome | 632 |
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. [5] 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. [6]
Pathology
Mutations of its encoding gene (chromosomal locus 6p12.2) can cause autosomal recessive polycystic kidney disease. PKHD1 gene codes for fibrocystin. Fibrocystin is found in the epithelial cell of both the renal tubule and the bile ducts. A mutation in PKHD1 (can be autosomal recessive pattern or spontaneous mutations) leading to a deficiency in fibrocystin causes characteristic polycystic dilation of both structures.
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000170927 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000043760 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ 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): 2311–2316. Bibcode: 2004PNAS..101.2311Z. doi: 10.1073/pnas.0400073101. PMC 356947. PMID 14983006.
- ^ Kim, Ingyu; Fu, Yulong; Hui, Kwokyin; Moeckel, Gilbert; Mai, Weiyi; Li, Cunxi; Liang, Dan; Zhao, Ping; Ma, Jie; Chen, Xing-Zhen; George, Alfred L.; Coffey, Robert J.; Feng, Zhong-Ping; Wu, Guanqing (March 2008). "Fibrocystin/Polyductin Modulates Renal Tubular Formation by Regulating Polycystin-2 Expression and Function". Journal of the American Society of Nephrology. 19 (3): 455–468. doi: 10.1681/ASN.2007070770. PMC 2391052. PMID 18235088.
External links
- GeneReviews/NIH/NCBI/UW entry on Polycystic Kidney Disease, Autosomal Recessive
- fibrocystin+protein,+human at the U.S. 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. |
| Fibrocystin | |
|---|---|
| Identifiers | |
| Symbol | Fibrocystin |
| InterPro | IPR029927 |
| Membranome | 632 |
| PKHD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | PKHD1, ARPKD, FCYT, TIGM1, polycystic kidney and hepatic disease 1 (autosomal recessive), fibrocystin/polyductin, FPC, PKD4, PKHD1 ciliary IPT domain containing fibrocystin/polyductin | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 606702; MGI: 2155808; HomoloGene: 16336; GeneCards: PKHD1; OMA: PKHD1 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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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. [5] 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. [6]
Pathology
Mutations of its encoding gene (chromosomal locus 6p12.2) can cause autosomal recessive polycystic kidney disease. PKHD1 gene codes for fibrocystin. Fibrocystin is found in the epithelial cell of both the renal tubule and the bile ducts. A mutation in PKHD1 (can be autosomal recessive pattern or spontaneous mutations) leading to a deficiency in fibrocystin causes characteristic polycystic dilation of both structures.
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000170927 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000043760 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ 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): 2311–2316. Bibcode: 2004PNAS..101.2311Z. doi: 10.1073/pnas.0400073101. PMC 356947. PMID 14983006.
- ^ Kim, Ingyu; Fu, Yulong; Hui, Kwokyin; Moeckel, Gilbert; Mai, Weiyi; Li, Cunxi; Liang, Dan; Zhao, Ping; Ma, Jie; Chen, Xing-Zhen; George, Alfred L.; Coffey, Robert J.; Feng, Zhong-Ping; Wu, Guanqing (March 2008). "Fibrocystin/Polyductin Modulates Renal Tubular Formation by Regulating Polycystin-2 Expression and Function". Journal of the American Society of Nephrology. 19 (3): 455–468. doi: 10.1681/ASN.2007070770. PMC 2391052. PMID 18235088.
External links
- GeneReviews/NIH/NCBI/UW entry on Polycystic Kidney Disease, Autosomal Recessive
- fibrocystin+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
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| This article on a gene on human chromosome 6 is a stub. You can help Wikipedia by expanding it. |