MYH14

Chr 19AD

myosin heavy chain 14

Also known as: DFNA4, DFNA4A, FP17425, MHC16, MYH17, NMHC II-C, NMHC-II-C, PNMHH

NCBI Gene: 79784 ENSG00000105357 UniProt: Q7Z406 OMIM: 608568

This gene encodes a non-muscle myosin that functions as an actin-dependent motor protein involved in cytokinesis, cell shape regulation, and specialized cellular functions including secretion. Mutations cause autosomal dominant deafness (DFNA4A) and a syndrome involving peripheral neuropathy, myopathy, hoarseness, and hearing loss. The gene is highly constrained against loss-of-function variants (LOEUF 0.332), indicating that such variants are likely pathogenic.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the myosin superfamily. The protein represents a conventional non-muscle myosin; it should not be confused with the unconventional myosin-14 (MYO14). Myosins are actin-dependent motor proteins with diverse functions including regulation of cytokinesis, cell motility, and cell polarity. Mutations in this gene result in one form of autosomal dominant hearing impairment. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Peripheral neuropathy, myopathy, hoarseness, and hearing lossMIM #614369

Deafness, autosomal dominant 4AMIM #600652

Clinical highlights

Gene-disease validity (ClinGen)

nonsyndromic genetic hearing loss · ADModerateconsider for supplementary testing

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.33

LOEUF· LoF intol.

Mechanism· predicted

📖

GeneReview available — MYH14

Authoritative clinical overview · Recommended first read