TNNC2 Chromosome 20
Troponin C2, fast skeletal type
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What This Gene Does
Troponin (Tn), a key protein complex in the regulation of striated muscle contraction, is composed of 3 subunits. The Tn-I subunit inhibits actomyosin ATPase, the Tn-T subunit binds tropomyosin and Tn-C, while the Tn-C subunit binds calcium and overcomes the inhibitory action of the troponin complex on actin filaments. The protein encoded by this gene is the Tn-C subunit. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"EF-hand domain containing|Troponin complex subunits|Cilia and flagella associated"
Locus Type
gene with protein product
Location
20q13.12
Ensembl
ENSG00000101470
Associated Conditions (1)
Congenital myopathy 15
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1804548 | Health Risk | Pathogenic | Congenital myopathy 15, Congenital myopathy 15 |
| RS2515818511 | Health Risk | Pathogenic | Congenital myopathy 15, Congenital myopathy 15 |