HMCN1

Hemicentin 1
Identifiers
Symbols	HMCN1 ; ARMD1; AXPC1; FBLN6; FIBL-6; FIBL6
External IDs	Template:OMIM5 HomoloGene: 23741
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Hemicentin 1, also known as HMCN1, is a human gene.

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.

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. 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. PMID 9295268.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 9409377.CS1 maint: Multiple names: authors list (link)
• 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. PMID 9715689.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Higgins JJ, Morton DH, Loveless JM (1999). "Posterior column ataxia with retinitis pigmentosa (AXPC1) maps to chromosome 1q31-q32". Neurology. 52 (1): 146–50. PMID 9921862.CS1 maint: Multiple names: authors list (link)
• Vogel BE, Hedgecock EM (2001). "Hemicentin, a conserved extracellular member of the immunoglobulin superfamily, organizes epithelial and other cell attachments into oriented line-shaped junctions". Development. 128 (6): 883–94. PMID 11222143.
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 17057786.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)