NCIt synonyms : Epididymis Secretory Sperm Binding Protein Li 167mP Gene; Carbonic Anhydrase, Muscle Specific Gene; HEL-S-167mP; Carbonic Anhydrase III, Muscle Specific Gene; Car3; Carbonic Anhydrase 3 wt Allele; CAIII;
NCIt definition : Human CA3 wild-type allele is located in the vicinity of 8q21.2 and is approximately
76 kb in length. This allele, which encodes carbonic anhydrase 3 protein, plays a
role in carbon dioxide metabolism in muscle cells. Elevated levels of expression for
this gene are associated with Duchenne muscular dystrophy. Rearrangements involving
the long arm of chromosome 8 with breakpoints within this gene and the MYBL1 gene
may be associated with breast cancer.;
OMIM relation