MYH9 myosin heavy chain 9
Gene ID: 4627, updated on 6-Oct-2024Gene type: protein coding
Also known as: MHA; FTNS; EPSTS; BDPLT6; DFNA17; MATINS; NMMHCA; NMHC-II-A; NMMHC-IIA
- See all available tests in GTR for this gene
- Go to complete Gene record for MYH9
- Go to Variation Viewer for MYH9 variants
Summary
This gene encodes a conventional non-muscle myosin; this protein should not be confused with the unconventional myosin-9a or 9b (MYO9A or MYO9B). The encoded protein is a myosin IIA heavy chain that contains an IQ domain and a myosin head-like domain which is involved in several important functions, including cytokinesis, cell motility and maintenance of cell shape. Defects in this gene have been associated with non-syndromic sensorineural deafness autosomal dominant type 17, Epstein syndrome, Alport syndrome with macrothrombocytopenia, Sebastian syndrome, Fechtner syndrome and macrothrombocytopenia with progressive sensorineural deafness. [provided by RefSeq, Dec 2011]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A risk allele for focal segmental glomerulosclerosis in African Americans is located within a region containing APOL1 and MYH9. GeneReviews: Not available | |
| Autosomal dominant nonsyndromic hearing loss 17 | See labs |
| Candidate genes for non-diabetic ESRD in African Americans: a genome-wide association study using pooled DNA. GeneReviews: Not available | |
| Genome-wide association identifies ATOH7 as a major gene determining human optic disc size. GeneReviews: Not available | |
| Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2024-09-04) ClinGen Genome Curation PageHaploinsufficency Little evidence for dosage pathogenicity (Last evaluated 2024-09-04) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 22q12.3
- Sequence:
- Chromosome: 22; NC_000022.11 (36281280..36387967, complement)
- Total number of exons:
- 41
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MYH9 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- Hereditary Hearing Loss Homepage
- MedGenRelated information in MedGen
- MYH9 database
- 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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