Anosmin-1

Anosmin-1
Identifiers
SymbolANOS1
Alt. symbolsKAL1, ADMLX
Alt. namesAdhesion molecule-like X-linked, Kallmann syndrome protein
NCBI gene3730
HGNC6211
OMIM308700
RefSeqNM_000216
UniProtP23352
Other data
LocusChr. X p22.32
Search for
StructuresSwiss-model
DomainsInterPro
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Anosmin-1 is a secreted, EM associated glycoprotein found in humans and other organisms responsible for normal development, which is expressed in the brain, spinal cord and kidney. Absence or damage to the protein results in Kallmann syndrome in humans, which is characterized by loss of olfactory bulbs and GnRH secretion leading to anosmia and hypothalamic hypogonadotropic hypogonadism. Anosmin-1 is coded by the KAL-1 gene, which is found on the X chromosome. Anosmin-1 is 100 kilodaltons and is expressed on the outside of cells. Because of this and because of its contribution to normal migration of nerve cells, a role in the extracellular matrix has been postulated.[1]

  1. ^ Endo Y, Ishiwata-Endo H, Yamada KM (August 2012). "Extracellular matrix protein anosmin promotes neural crest formation and regulates FGF, BMP, and WNT activities". Developmental Cell. 23 (2): 305–16. doi:10.1016/j.devcel.2012.07.006. PMC 3422507. PMID 22898776.