MYH1

Chr 17p13.1

myosin heavy chain 1

Aliases:: MYHSA1, MYHa, MyHC-2X/D, MGC133384
MANE:: ENST00000226207.6

OMIM: 160730 ↗NCBI: 4619 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

MYH1 · P12882

v62025-08-01

Predicted Aligned Error matrix for MYH1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

73.6/ 100

Confident

1,939 residues

Confidence breakdown

Very high(≥ 90)9%
Confident(70–90)53%
Low(50–70)35%
Very low(< 50)4%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Acute rhabdomyolysis
BIALLELIC, autosomal or pseudoautosomal
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

rhabdomyolysis
0.24
Alzheimer disease
0.20
Parkinson disease
0.20
neurodegenerative disease
0.19
multiple sclerosis
0.19
lysosomal storage disease
0.19
Congenital muscular dystrophy, Fukuyama type
0.12
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
0.12
Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
0.12
Congenital myasthenic syndromes
0.08

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Myosin-1

Required for normal hearing. It plays a role in cochlear amplification of auditory stimuli, likely through the positive regulation of prestin (SLC26A5) activity and outer hair cell (OHC) electromotility