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PNMHH
Chr 19ADmyosin heavy chain 14
Also known as: DFNA4, DFNA4A, FP17425, MHC16, MYH17, NMHC II-C, NMHC-II-C, PNMHH
This gene encodes a conventional non-muscle myosin, an actin-dependent motor protein that regulates cytokinesis, cell motility, and cell polarity. Mutations cause autosomal dominant peripheral neuropathy, myopathy, hoarseness, and hearing loss, affecting both the nervous system and muscle function. The inheritance pattern is autosomal dominant.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/PNMHH?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PNMHH · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools