| Entrez Gene ID | 4604 |
|---|---|
| Official Gene Symbol | MYBPC1 (GeneCards) |
| Full name | myosin binding protein C, slow type |
| Location | 12q23.2 |
| Other ids | Vega : OTTHUMG00000170274 MIM : 160794 HGNC : HGNC:7549 Ensembl : ENSG00000196091 |
| Other names | LCCS4, MYBPCC, MYBPCS |
| Summary | This gene encodes a member of the myosin-binding protein C family. Myosin-binding protein C family members are myosin-associated proteins found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The encoded protein is the slow skeletal muscle isoform of myosin-binding protein C and plays an important role in muscle contraction by recruiting muscle-type creatine kinase to myosin filaments. Mutations in this gene are associated with distal arthrogryposis type I. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] |
Found 2 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 834 | 4604 | MYBPC1 | 12 | 102040625 | 102040625 | Human Skin Fibroblasts | HiSeq 2500 |
| 16885 | 4604 | MYBPC1 | 12 | 102043941 | 102043941 | Asymptomatic | HiSeq 2500 HiSeq X Ten |