HMCN1
| Hemicentin 1 | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbols | HMCN1 ; ARMD1; FBLN6; FIBL-6; FIBL6 | ||||||||||||
| External IDs | OMIM: 608548 HomoloGene: 23741 GeneCards: HMCN1 Gene | ||||||||||||
| |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 83872 | 545370 | |||||||||||
| Ensembl | ENSG00000143341 | ENSMUSG00000066842 | |||||||||||
| UniProt | Q96RW7 | n/a | |||||||||||
| RefSeq (mRNA) | NM_031935 | NM_001024720 | |||||||||||
| RefSeq (protein) | NP_114141 | NP_001019891 | |||||||||||
| Location (UCSC) |
Chr 1: 185.73 – 186.19 Mb |
Chr 1: 150.56 – 150.99 Mb | |||||||||||
| PubMed search | |||||||||||||
Hemicentin-1 is a protein that in humans is encoded by the HMCN1 gene.[1][2]
This gene encodes a large extracellular member of the immunoglobulin superfamily. A similar protein in C. elegans forms long, fine tracks at specific extracellular sites that are involved in many processes such as stabilization of the germline syncytium, anchorage of mechanosensory neurons to the epidermis, and organization of hemidesmosomes in the epidermis. Mutations in this gene may be associated with age-related macular degeneration.[2]
References
Further reading
- Whittaker CA, Hynes RO (2003). "Distribution and Evolution of von Willebrand/Integrin A Domains: Widely Dispersed Domains with Roles in Cell Adhesion and Elsewhere". Mol. Biol. Cell 13 (10): 3369–87. doi:10.1091/mbc.E02-05-0259. PMC 129952. PMID 12388743.
- Allikmets R, Shroyer NF, Singh N, et al. (1997). "Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration". Science 277 (5333): 1805–7. doi:10.1126/science.277.5333.1805. PMID 9295268.
- Higgins JJ, Morton DH, Patronas N, Nee LE (1998). "An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa". Neurology 49 (6): 1717–20. doi:10.1212/wnl.49.6.1717. PMID 9409377.
- Klein ML, Schultz DW, Edwards A, et al. (1998). "Age-related macular degeneration. Clinical features in a large family and linkage to chromosome 1q". Arch. Ophthalmol. 116 (8): 1082–8. doi:10.1001/archopht.116.8.1082. PMID 9715689.
- Higgins JJ, Morton DH, Loveless JM (1999). "Posterior column ataxia with retinitis pigmentosa (AXPC1) maps to chromosome 1q31-q32". Neurology 52 (1): 146–50. doi:10.1212/wnl.52.1.146. PMID 9921862.
- Schultz DW, Klein ML, Humpert AJ, et al. (2004). "Analysis of the ARMD1 locus: evidence that a mutation in HEMICENTIN-1 is associated with age-related macular degeneration in a large family". Hum. Mol. Genet. 12 (24): 3315–23. doi:10.1093/hmg/ddg348. PMID 14570714.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature 441 (7091): 315–21. doi:10.1038/nature04727. PMID 16710414.
- Seitsonen S, Lemmelä S, Holopainen J, et al. (2006). "Analysis of variants in the complement factor H, the elongation of very long chain fatty acids-like 4 and the hemicentin 1 genes of age-related macular degeneration in the Finnish population". Mol. Vis. 12: 796–801. PMID 16885922.
- Bojanowski CM, Tuo J, Chew EY, et al. (2006). "ANALYSIS OF HEMICENTIN-1, HOGG1, AND E-SELECTIN SINGLE NUCLEOTIDE POLYMORPHISMS IN AGE-RELATED MACULAR DEGENERATION". Transactions of the American Ophthalmological Society 103: 37–44; discussion 44–5. PMC 1447557. PMID 17057786.
- Fuse N, Miyazawa A, Mengkegale M, et al. (2007). "Polymorphisms in Complement Factor H and Hemicentin-1 genes in a Japanese population with dry-type age-related macular degeneration". Am. J. Ophthalmol. 142 (6): 1074–6. doi:10.1016/j.ajo.2006.07.030. PMID 17157600.
- Fisher SA, Rivera A, Fritsche LG, et al. (2007). "Case-control genetic association study of fibulin-6 (FBLN6 or HMCN1) variants in age-related macular degeneration (AMD)". Hum. Mutat. 28 (4): 406–13. doi:10.1002/humu.20464. PMID 17216616.
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