Biology:ANOS1

Short description: Protein-coding gene in the species Homo sapiens

Generic protein structure example

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

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

• "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. doi:10.1210/jcem.87.6.8611. PMID 12050219. 
• "Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome". Nature Genetics 33 (4): 463–465. April 2003. doi:10.1038/ng1122. PMID 12627230. 
• "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. doi:10.1210/jc.2003-030476. PMID 15001591. 
• "Mutation analysis of the KAL gene in female patients with gonadotropin-releasing hormone deficiency". Yonsei Medical Journal 45 (1): 107–12. February 2004. doi:10.3349/ymj.2004.45.1.107. PMID 15004876. 
• "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. doi:10.1042/BJ20041078. PMID 15324302. 
• "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. doi:10.1093/hmg/ddh309. PMID 15471890. http://pdfs.semanticscholar.org/6fc2/f34986952bd008517292a8b4e766b85c15a1.pdf. 
• "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. doi:10.1523/JNEUROSCI.3400-04.2004. PMID 15548653. PMC 6730313. http://discovery.ucl.ac.uk/795/1/795.pdf. 
• "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. doi:10.1007/BF03347520. PMID 15636431. 
• "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. doi:10.1016/j.jmb.2005.04.031. PMID 15949815. 

This article incorporates text from the United States National Library of Medicine, which is in the public domain.