ANOS1 explained

Anosmin 1 is a protein that in humans is encoded by the ANOS1 gene.^[1]

Function

Mutations in this gene cause the X-linked Kallmann Syndrome. The encoded protein is similar in sequence to proteins known to function in neural cell adhesion and axonal migration. In addition, this cell surface protein is N-glycosylated, and may have antiprotease activity. [provided by RefSeq, Jul 2008].

Further reading

• Söderlund D, Canto P, Méndez JP . Identification of three novel mutations in the KAL1 gene in patients with Kallmann syndrome . The Journal of Clinical Endocrinology & Metabolism. 87 . 6 . 2589–92 . June 2002 . 12050219 . 10.1210/jcem.87.6.8611 . free .
• Dodé C, Levilliers J, Dupont JM, De Paepe A, Le Dû N, Soussi-Yanicostas N, Coimbra RS, Delmaghani S, Compain-Nouaille S, Baverel F, Pêcheux C, Le Tessier D, Cruaud C, Delpech M, Speleman F, Vermeulen S, Amalfitano A, Bachelot Y, Bouchard P, Cabrol S, Carel JC, Delemarre-van de Waal H, Goulet-Salmon B, Kottler ML, Richard O, Sanchez-Franco F, Saura R, Young J, Petit C, Hardelin JP . Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome . Nature Genetics. 33 . 4 . 463–465 . April 2003 . 12627230 . 10.1038/ng1122 . free .
• Sato N, Katsumata N, Kagami M, Hasegawa T, Hori N, Kawakita S, Minowada S, Shimotsuka A, Shishiba Y, Yokozawa M, Yasuda T, Nagasaki K, Hasegawa D, Hasegawa Y, Tachibana K, Naiki Y, Horikawa R, Tanaka T, Ogata T . Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients . The Journal of Clinical Endocrinology & Metabolism. 89 . 3 . 1079–88 . March 2004 . 15001591 . 10.1210/jc.2003-030476 . free .
• Lee SH, Han JH, Cho SW, Lee WH, Cha KY, Lee MH . Mutation analysis of the KAL gene in female patients with gonadotropin-releasing hormone deficiency . Yonsei Medical Journal. 45 . 1 . 107–12 . February 2004 . 15004876 . 10.3349/ymj.2004.45.1.107 . free .
• Hu Y, González-Martínez D, Kim SH, Bouloux PM . Cross-talk of anosmin-1, the protein implicated in X-linked Kallmann's syndrome, with heparan sulphate and urokinase-type plasminogen activator . Biochemical Journal. 384 . Pt 3 . 495–505 . December 2004 . 15324302 . 1134135 . 10.1042/BJ20041078 .
• Cariboni A, Pimpinelli F, Colamarino S, Zaninetti R, Piccolella M, Rumio C, Piva F, Rugarli EI, Maggi R . The product of X-linked Kallmann's syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH)-producing neurons . Human Molecular Genetics. 13 . 22 . 2781–91 . November 2004 . 15471890 . 10.1093/hmg/ddh309 . 5248283 . https://web.archive.org/web/20190226095322/http://pdfs.semanticscholar.org/6fc2/f34986952bd008517292a8b4e766b85c15a1.pdf . dead . 2019-02-26 .
• González-Martínez D, Kim SH, Hu Y, Guimond S, Schofield J, Winyard P, Vannelli GB, Turnbull J, Bouloux PM . Anosmin-1 modulates fibroblast growth factor receptor 1 signaling in human gonadotropin-releasing hormone olfactory neuroblasts through a heparan sulfate-dependent mechanism . Journal of Neuroscience. 24 . 46 . 10384–92 . November 2004 . 15548653 . 10.1523/JNEUROSCI.3400-04.2004 . 6730313 . free .
• Söderlund D, Vilchis F, Méndez JP . Polymorphic changes in the KAL1 gene: not all of them should be classified as polymorphisms . Journal of Endocrinological Investigation. 27 . 8 . 765–9 . September 2004 . 15636431 . 10.1007/BF03347520 . 24410365 .
• Hu Y, Sun Z, Eaton JT, Bouloux PM, Perkins SJ . Extended and flexible domain solution structure of the extracellular matrix protein anosmin-1 by X-ray scattering, analytical ultracentrifugation and constrained modelling . Journal of Molecular Biology. 350 . 3 . 553–70 . July 2005 . 15949815 . 10.1016/j.jmb.2005.04.031 .

Notes and References

1. Web site: Entrez Gene: Anosmin 1. 2018-08-18.