KAL1 gene
| Kallmann syndrome 1 sequence | |
|---|---|
| Identifiers | |
| Symbol | ANOS1 |
| Alt. symbols | KAL1, ADMLX |
| Entrez | 3730 |
| HUGO | 6211 |
| OMIM | 308700 |
| RefSeq | NM_000216 |
| UniProt | P23352 |
| Other data | |
| Locus | Chr. X p22.32 |
The KAL1 gene, now renamed ANOS1, is a human gene which is located on the X chromosome at Xp22.3 and is affected in some male individuals with Kallmann syndrome. This gene codes for a protein of the extracellular matrix named anosmin-1, which is involved in the migration of certain nerve cell precursors (neuroendocrine GnRH cells) during embryogenesis. Deletion or mutation of this gene results in loss of the functional protein and affects the proper development of the olfactory nerves and olfactory bulbs. In addition, neural cells that produce GnRH fail to migrate to the hypothalamus.
Clinically, mutation results in the X-linked form of Kallmann syndrome. Individuals with Kallmann syndrome experience anosmia (lack of smell) and do not go through puberty (hypothalamic hypogonadotropic hypogonadism).
ANOS1 is made of 14 exons and spans 120-200 kilobases. Mutations of ANOS1 may account for 14% of the cases of familial Kallmann syndrome and 11% of male sporadic cases.
References
- del Castillo I, Cohen-Salmon M, Blanchard S, Lutfalla G, Petit C. Structure of the X-linked Kallmann syndrome gene and its homologous pseudogene on the Y chromosome. Nat Genet. 1992 Dec;2(4):305-10. PMID 1303284