MYH10 Chromosome 17
Myosin heavy chain 10
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What This Gene Does
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-10 (MYO10). Myosins are actin-dependent motor proteins with diverse functions including regulation of cytokinesis, cell motility, and cell polarity. Mutations in this gene have been associated with May-Hegglin anomaly and developmental defects in brain and heart. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
Gene Info
Gene Group
Myosin heavy chains, class II
Locus Type
gene with protein product
Location
17p13.1
Ensembl
ENSG00000133026
Associated Conditions (5)
See cases
Complex neurodevelopmental disorders
7 conditions
6 conditions
Inborn genetic diseases
Key Variants
RS2151813002
Conflicting classifications of pathogenicity
See cases, See cases
Health Risk
RS2082452725
Likely pathogenic
Health Risk
RS2544384657
Likely pathogenic
Health Risk
RS2544245567
Pathogenic
Complex neurodevelopmental disorders, Complex neurodevelopmental disorders
Health Risk
RS2544300043
Pathogenic
See cases, See cases
Health Risk
RS755969165
Pathogenic
7 conditions, 6 conditions, 7 conditions
Health Risk
RS797044880
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2151813002 | Health Risk | Conflicting classifications of pathogenicity | See cases, See cases |
| RS2082452725 | Health Risk | Likely pathogenic | — |
| RS2544384657 | Health Risk | Likely pathogenic | — |
| RS2544245567 | Health Risk | Pathogenic | Complex neurodevelopmental disorders, Complex neurodevelopmental disorders |
| RS2544300043 | Health Risk | Pathogenic | See cases, See cases |
| RS755969165 | Health Risk | Pathogenic | 7 conditions, 6 conditions, 7 conditions |
| RS797044880 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |