MYO9A myosin IXA
Gene ID: 4649, updated on 28-Oct-2024Gene type: protein coding
Also known as: CMS24
- See all available tests in GTR for this gene
- Go to complete Gene record for MYO9A
- Go to Variation Viewer for MYO9A variants
Summary
This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). Unconventional myosins contain the basic domains of conventional myosins and are further distinguished from class members by their tail domains. They function as actin-based molecular motors. Mutations in this gene have been associated with Bardet-Biedl Syndrome. [provided by RefSeq, Dec 2011]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Congenital myasthenic syndrome MedGen: C0751882GeneReviews: Congenital Myasthenic Syndromes Overview | See labs |
| Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid. GeneReviews: Not available | |
| Hundreds of variants clustered in genomic loci and biological pathways affect human height. GeneReviews: Not available | |
| Myasthenic syndrome, congenital, 24, presynaptic | See labs |
Genomic context
- Location:
- 15q23
- Sequence:
- Chromosome: 15; NC_000015.10 (71822291..72118600, complement)
- Total number of exons:
- 47
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MYO9A variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- 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
- Variation ViewerRelated Variants
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