MYBPC2 Chromosome 19
Myosin binding protein C2
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What This Gene Does
This gene encodes a member of the myosin-binding protein C family. This family includes the fast-, slow- and cardiac-type isoforms, each of which is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The protein encoded by this locus is referred to as the fast-type isoform. Mutations in the related but distinct genes encoding the slow-type and cardiac-type isoforms have been associated with distal arthrogryposis, type 1 and hypertrophic cardiomyopathy, respectively. [provided by RefSeq, Jul 2012]
Gene Info
Gene Group
"I-set domain containing|Myosin binding proteins"
Locus Type
gene with protein product
Location
19q13.33
Ensembl
ENSG00000086967
Associated Conditions (1)
Nonpapillary renal cell carcinoma
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS11879768 | Health Risk | Conflicting classifications of pathogenicity | Nonpapillary renal cell carcinoma, Nonpapillary renal cell carcinoma |