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Protein-coding gene in humans
Anosmin 1 is a protein that in humans is encoded by the ANOS1 gene .
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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].
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Lee SH, Han JH, Cho SW, Lee WH, Cha KY, Lee MH (February 2004). "Mutation analysis of the KAL gene in female patients with gonadotropin-releasing hormone deficiency" . Yonsei Medical Journal . 45 (1): 107–12. doi :10.3349/ymj.2004.45.1.107 . PMID 15004876 .
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Cariboni A, Pimpinelli F, Colamarino S, Zaninetti R, Piccolella M, Rumio C, Piva F, Rugarli EI, Maggi R (November 2004). "The product of X-linked Kallmann's syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH)-producing neurons" (PDF) . Human Molecular Genetics . 13 (22): 2781–91. doi :10.1093/hmg/ddh309 . PMID 15471890 . S2CID 5248283 . Archived from the original (PDF) on 2019-02-26.
González-Martínez D, Kim SH, Hu Y, Guimond S, Schofield J, Winyard P, Vannelli GB, Turnbull J, Bouloux PM (November 2004). "Anosmin-1 modulates fibroblast growth factor receptor 1 signaling in human gonadotropin-releasing hormone olfactory neuroblasts through a heparan sulfate-dependent mechanism" (PDF) . Journal of Neuroscience . 24 (46): 10384–92. doi :10.1523/JNEUROSCI.3400-04.2004 . PMC 6730313 . PMID 15548653 .
Söderlund D, Vilchis F, Méndez JP (September 2004). "Polymorphic changes in the KAL1 gene: not all of them should be classified as polymorphisms". Journal of Endocrinological Investigation . 27 (8): 765–9. doi :10.1007/BF03347520 . PMID 15636431 . S2CID 24410365 .
Hu Y, Sun Z, Eaton JT, Bouloux PM, Perkins SJ (July 2005). "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. 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 .