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ANOS1 anosmin 1

Also known as: HH1; HHA; KAL; KMS; KAL1; ADMLX; WFDC19; KALIG-1

Summary

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]

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-06-28)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-06-28)

ClinGen Genome Curation Page

Genomic context

Location:
Xp22.31
Sequence:
Chromosome: X; NC_000023.11 (8528874..8732187, complement)
Total number of exons:
15

Links

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