ANOS1 anosmin 1
Gene ID: 3730, updated on 5-Mar-2024Gene type: protein coding
Also known as: HH1; HHA; KAL; KMS; KAL1; ADMLX; WFDC19; KALIG-1
- See all available tests in GTR for this gene
- Go to complete Gene record for ANOS1
- Go to Variation Viewer for ANOS1 variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Hypogonadotropic hypogonadism 1 with or without anosmia | See labs |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2021-05-26) ClinGen Genome Curation PagePubMedTriplosensitivity |
Genomic context
- Location:
- Xp22.31
- Sequence:
- Chromosome: X; NC_000023.11 (8528874..8732137, complement)
- Total number of exons:
- 15
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ANOS1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- KAL1 @ LOVD
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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