rs775303284
This variant is located in the CARNS1 gene.
▶ClinVar annotation
About CARNS1
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]
View all CARNS1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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