Entrez Gene ID | 4628 |
---|---|
Official Gene Symbol | MYH10 (GeneCards) |
Full name | myosin heavy chain 10 |
Location | 17p13.1 |
Other ids | Vega : OTTHUMG00000108195 MIM : 160776 HGNC : HGNC:7568 Ensembl : ENSG00000133026 |
Other names | NMMHCB, NMMHC-IIB |
Summary | 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] |
Found 4 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
19830 | 4628 | MYH10 | 17 | 8441154 | 8441154 | Asymptomatic | HiSeq X Ten |
20185 | 4628 | MYH10 | 17 | 8488441 | 8488441 | Xeroderma Pigmentosum | HiSeq X Ten |
28298 | 4628 | MYH10 | 17 | 8611441 | 8611441 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
29596 | 4628 | MYH10 | 17 | 8526323 | 8526323 | Autism Spectrum Disorders | HiSeq X Ten Single cell Sequencing Cell cloning MiSeq |