NP_000207.2
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
76,112 Da
NCBI Official Full Name
anosmin-1
NCBI Official Synonym Full Names
Kallmann syndrome 1 sequence
NCBI Official Synonym Symbols
HH1; HHA; KAL; KMS; ADMLX; WFDC19; KALIG-1 [Similar Products]
NCBI Protein Information
anosmin-1; kallmann syndrome protein; adhesion molecule-like X-linked; Kallmann syndrome interval gene 1; WAP four-disulfide core domain 19; Kallmann syndrome-1 sequence (anosmin-1)
UniProt Protein Name
Anosmin-1
UniProt Synonym Protein Names
Adhesion molecule-like X-linked; Kallmann syndrome protein
UniProt Synonym Gene Names
UniProt Entry Name
KALM_HUMAN
NCBI Summary for KAL1
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 anti-protease activity. [provided by RefSeq, Jul 2008]
UniProt Comments for KAL1
KAL1: Has a dual branch-promoting and guidance activity, which may play an important role in the patterning of mitral and tufted cell collaterals to the olfactory cortex. Chemoattractant for fetal olfactory epithelial cells. Defects in KAL1 are the cause of Kallmann syndrome type 1 (KAL1); also known as hypogonadotropic hypogonadism and anosmia. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin- releasing hormone-synthesizing neurons. In some patients other developmental anomalies can be present, which include renal agenesis, cleft lip and/or palate, selective tooth agenesis, and bimanual synkinesis. In some cases anosmia may be absent or inconspicuous.
Protein type: Extracellular matrix; Motility/polarity/chemotaxis
Chromosomal Location of Human Ortholog: Xp22.32
Cellular Component: proteinaceous extracellular matrix; extracellular space; plasma membrane
Molecular Function: heparin binding; serine-type endopeptidase inhibitor activity; protein binding; extracellular matrix structural constituent
Biological Process: axon guidance; chemotaxis; cell motility; cell adhesion
Disease: Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Research Articles on KAL1
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Diseases associated with KAL1 elisa kit
Organs/Tissues associated with KAL1 elisa kit
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