CARNS1 Chromosome 11
Carnosine synthase 1
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What This Gene Does
CARNS1 (EC 6.3.2.11), a member of the ATP-grasp family of ATPases, catalyzes the formation of carnosine (beta-alanyl-L-histidine) and homocarnosine (gamma-aminobutyryl-L-histidine), which are found mainly in skeletal muscle and the central nervous system, respectively (Drozak et al., 2010 [PubMed 20097752]).[supplied by OMIM, Apr 2010]
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS746941221 | Health Risk | Conflicting classifications of pathogenicity | — |