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A single case of thyroid cancer showed moderate cytoplasmic and nuclear positivity. Remaining cancers were negative.
GENE INFORMATION
Gene name
CARNS1 (HGNC Symbol)
Synonyms
ATPGD1, KIAA1394
Description
Carnosine synthase 1 (HGNC Symbol)
Entrez gene summary
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]