ANOS1

anosmin 1

Ensembl:: ENSG00000011201
UniProt:: P23352
OMIM:: 300836
Synonyms:: ADMLX, KAL, KAL1, KALIG-1, WFDC19

Cilia effects upon perturbation of ANOS1

Phenotypes

Human ciliopathy phenotype:: hypogonadotropic hypogonadism 1 with or without anosmia

Ciliopathy associations

Kallmann Syndrome

Subcellular localization

cilia associated gene

Functional category

Ciliary assembly/disassembly
Neurogenesis & migration
Signaling (Hedgehog, GPCRs, ion channels)
Axon guidance & growth
ECM & connective tissue

Function

Anosmin-1 (A1) is an extracellular matrix protein that binds to FGF receptor 1 (FGFR1) to exert its biological effects( 25300351).

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