MYO1H Chromosome 12
Myosin IH
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What This Gene Does
Predicted to enable actin filament binding activity and microfilament motor activity. Predicted to be involved in actin filament organization; actin filament-based movement; and endocytosis. Predicted to be part of myosin complex. Predicted to be active in several cellular components, including actin cytoskeleton; microvillus; and plasma membrane. Implicated in congenital central hypoventilation syndrome. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Myosin heavy chains, class I
Locus Type
gene with protein product
Location
12q24.11
Ensembl
ENSG00000174527
Associated Conditions (4)
Central hypoventilation syndrome
congenital
2
and autonomic dysfunction
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1872134198 | Health Risk | Pathogenic | Central hypoventilation syndrome, congenital, 2 |
| RS773351711 | Health Risk | Pathogenic/Likely pathogenic | Central hypoventilation syndrome, congenital, 2 |