// Workers AI · dad joke modeWhat did fibrocystin say? I'm cys-tically important.
| 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
[edit]Mutations of its encoding gene (chromosomal locus 6p12.2) can cause autosomal recessive polycystic kidney disease (ARPKD). 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.
PKHD1 is a relatively large gene, comprising dozens of exons and introns, and multiple alternatively spliced isoforms.[7] ARPKD has been shown to be caused numerous reports of biallelic truncating mutations, including missense mutations - elucidatinf that the disease may stem from the absence of PKHD1 or, alternatively, it's abnormal structure. Morover, several report have shown that non-coding deep-intronic variant can introduce a pathogenic pseudoexon (an intronic sequence that is being mistakenly recognised as an exon by the cell's splicing mechanism) into the coding sequence - resulting in a premature stop codon and total loss of th protein.[8] While these cases are rare and sporadic relative to the identification of "straight forward" coding mutations in PKHD1, the can be a major cause of morbidity in specific isolated population, such as Israeli Bedouins.
References
[edit]- 1 2 3 GRCh38: Ensembl release 89: ENSG00000170927 – Ensembl, May 2017
- 1 2 3 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, et al. (2004). "PKHD1 protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in renal epithelial cells". Proceedings of the National Academy of Sciences of the United States of America. 101 (8): 2311–2316. Bibcode:2004PNAS..101.2311Z. doi:10.1073/pnas.0400073101. PMC 356947. PMID 14983006.
- ↑ Kim I, Fu Y, Hui K, Moeckel G, Mai W, Li C, et al. (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.
- ↑ Onuchic LF, Furu L, Nagasawa Y, Hou X, Eggermann T, Ren Z, et al. (May 2002). "PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats". American Journal of Human Genetics. 70 (5): 1305–1317. doi:10.1086/340448. PMC 447605. PMID 11898128.
- ↑ Agam N, Wormser O, Biller A, Hadar N, Dolgin V, Freund O, et al. (December 2025). "Intronic and Coding Genetic Variants in Autosomal Recessive Polycystic Kidney Disease Among Israeli Bedouins of Arabian Peninsula Ancestry". American Journal of Kidney Diseases: The Official Journal of the National Kidney Foundation. 86 (6): 730–739.e1. doi:10.1053/j.ajkd.2025.06.011. PMID 40816622.
External links
[edit]- 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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