HMCN1

HMCN1

Hemicentin 1, also known as HMCN1, is a human gene.cite web | title = Entrez Gene: HMCN1 hemicentin 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=83872| accessdate = ]

PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: HMCN1 hemicentin 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=83872| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Whittaker CA, Hynes RO |title=Distribution and evolution of von Willebrand/integrin A domains: widely dispersed domains with roles in cell adhesion and elsewhere. |journal=Mol. Biol. Cell |volume=13 |issue= 10 |pages= 3369–87 |year= 2003 |pmid= 12388743 |doi= 10.1091/mbc.E02-05-0259
*cite journal | author=Allikmets R, Shroyer NF, Singh N, "et al." |title=Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. |journal=Science |volume=277 |issue= 5333 |pages= 1805–7 |year= 1997 |pmid= 9295268 |doi=
*cite journal | author=Higgins JJ, Morton DH, Patronas N, Nee LE |title=An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa. |journal=Neurology |volume=49 |issue= 6 |pages= 1717–20 |year= 1998 |pmid= 9409377 |doi=
*cite journal | author=Klein ML, Schultz DW, Edwards A, "et al." |title=Age-related macular degeneration. Clinical features in a large family and linkage to chromosome 1q. |journal=Arch. Ophthalmol. |volume=116 |issue= 8 |pages= 1082–8 |year= 1998 |pmid= 9715689 |doi=
*cite journal | author=Higgins JJ, Morton DH, Loveless JM |title=Posterior column ataxia with retinitis pigmentosa (AXPC1) maps to chromosome 1q31-q32. |journal=Neurology |volume=52 |issue= 1 |pages= 146–50 |year= 1999 |pmid= 9921862 |doi=
*cite journal | author=Vogel BE, Hedgecock EM |title=Hemicentin, a conserved extracellular member of the immunoglobulin superfamily, organizes epithelial and other cell attachments into oriented line-shaped junctions. |journal=Development |volume=128 |issue= 6 |pages= 883–94 |year= 2001 |pmid= 11222143 |doi=
*cite journal | author=Schultz DW, Klein ML, Humpert AJ, "et al." |title=Analysis of the ARMD1 locus: evidence that a mutation in HEMICENTIN-1 is associated with age-related macular degeneration in a large family. |journal=Hum. Mol. Genet. |volume=12 |issue= 24 |pages= 3315–23 |year= 2004 |pmid= 14570714 |doi= 10.1093/hmg/ddg348
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Gregory SG, Barlow KF, McLay KE, "et al." |title=The DNA sequence and biological annotation of human chromosome 1. |journal=Nature |volume=441 |issue= 7091 |pages= 315–21 |year= 2006 |pmid= 16710414 |doi= 10.1038/nature04727
*cite journal | author=Seitsonen S, Lemmelä S, Holopainen J, "et al." |title=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. |journal=Mol. Vis. |volume=12 |issue= |pages= 796–801 |year= 2006 |pmid= 16885922 |doi=
*cite journal | author=Bojanowski CM, Tuo J, Chew EY, "et al." |title=Analysis of Hemicentin-1, hOgg1, and E-selectin single nucleotide polymorphisms in age-related macular degeneration. |journal=Transactions of the American Ophthalmological Society |volume=103 |issue= |pages= 37–44; discussion 44–5 |year= 2006 |pmid= 17057786 |doi=
*cite journal | author=Fuse N, Miyazawa A, Mengkegale M, "et al." |title=Polymorphisms in Complement Factor H and Hemicentin-1 genes in a Japanese population with dry-type age-related macular degeneration. |journal=Am. J. Ophthalmol. |volume=142 |issue= 6 |pages= 1074–6 |year= 2007 |pmid= 17157600 |doi= 10.1016/j.ajo.2006.07.030
*cite journal | author=Fisher SA, Rivera A, Fritsche LG, "et al." |title=Case-control genetic association study of fibulin-6 (FBLN6 or HMCN1) variants in age-related macular degeneration (AMD). |journal=Hum. Mutat. |volume=28 |issue= 4 |pages= 406–13 |year= 2007 |pmid= 17216616 |doi= 10.1002/humu.20464

PBB_Controls
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