Alternative titles; symbols
HGNC Approved Gene Symbol: CA3
Cytogenetic location: 8q21.2 Genomic coordinates (GRCh38): 8:85,438,859-85,449,040 (from NCBI)
Carbonic anhydrases (CAs) are a family of zinc metalloenzymes. For background information on the CA family, see 114800.
Carbonic anhydrase III is found in high concentration in muscle. It shows relatively poor hydratase and esterase activities compared to the red cell isozymes CA I (114800) and CA II (611492), but is similar in subunit structure (monomer) and molecular mass (28 kD) (Carter et al., 1979).
Wade et al. (1986) identified a CA3 mRNA transcript from an adult human muscle cDNA library and presented the complete nucleotide sequence of the cDNA clone.
Heath et al. (1985) explored the use of CA III in conjunction with creatine kinase detection of the carrier state for Duchenne muscular dystrophy.
Using a cDNA clone of the CA3 gene in the study of human-rodent hybrids, Edwards et al. (1985, 1986) mapped the gene to chromosome 8 which carries a cluster of CA genes. This was the first assignment of the CA3 locus in any species. Using a panel of human-mouse cell hybrids, Wade et al. (1986) localized the CA3 gene to chromosome 8, thus confirming the work of Edwards et al. (1986). Beechey et al. (1990) mapped the mouse equivalent, Car3, to chromosome 3 and showed, by analysis of an interspecific backcross, that Car3 is 2.4 map units from both Car1 and Car2. No recombinants were found between Car1 and Car2 in 100 backcross offspring.
Data on gene frequencies of allelic variants were tabulated by Roychoudhury and Nei (1988).
Beechey, C., Tweedie, S., Spurr, N., Ball, S., Peters, J., Edwards, Y. Mapping of mouse carbonic anhydrase-3, Car-3: another locus in the homologous region of mouse chromosome 3 and human chromosome 8. Genomics 6: 692-696, 1990. [PubMed: 2111277] [Full Text: https://doi.org/10.1016/0888-7543(90)90506-p]
Carter, N., Jeffery, S., Shiels, A., Edwards, Y., Tipler, T., Hopkinson, D. A. Characterization of human carbonic anhydrase III from skeletal muscle. Biochem. Genet. 17: 837-854, 1979. [PubMed: 120192] [Full Text: https://doi.org/10.1007/BF00504307]
Edwards, Y. H., Lloyd, J. C., Parkar, M., Povey, S. The gene for human muscle specific carbonic anhydrase (CAIII) is assigned to chromosome 8. Ann. Hum. Genet. 50: 41-47, 1986. [PubMed: 3122635] [Full Text: https://doi.org/10.1111/j.1469-1809.1986.tb01937.x]
Edwards, Y. H., Lloyd, J., Parkar, M., Povey, S. Human muscle specific carbonic anhydrase, CA3, is on chromosome 8. (Abstract) Cytogenet. Cell Genet. 40: 621 only, 1985.
Heath, R., Carter, N. D., Jeffery, S., Edwards, R. J., Watts, D. C., Watts, R. L. Evaluation of carrier detection of Duchenne muscular dystrophy using carbonic anhydrase III and creatine kinase. Am. J. Med. Genet. 21: 291-296, 1985. [PubMed: 3925781] [Full Text: https://doi.org/10.1002/ajmg.1320210211]
Lloyd, J., Brownson, C., Tweedie, S., Charlton, J., Edwards, Y. H. Human muscle carbonic anhydrase: gene structure and DNA methylation patterns in fetal and adult tissues. Genes Dev. 1: 594-602, 1987. [PubMed: 2824285] [Full Text: https://doi.org/10.1101/gad.1.6.594]
Lloyd, J. C., Isenberg, H., Hopkinson, D. A., Edwards, Y. H. Isolation of a cDNA clone for the human muscle specific carbonic anhydrase, CA III. Ann. Hum. Genet. 49: 241-251, 1985. [PubMed: 3000276] [Full Text: https://doi.org/10.1111/j.1469-1809.1985.tb01698.x]
Lloyd, J., McMillan, S., Hopkinson, D., Edwards, Y. H. Nucleotide sequence and derived amino acid sequence of a cDNA encoding human muscle carbonic anhydrase. Gene 41: 233-239, 1986. [PubMed: 3086182] [Full Text: https://doi.org/10.1016/0378-1119(86)90103-4]
Roychoudhury, A. K., Nei, M. Human Polymorphic Genes: World Distribution. New York: Oxford Univ. Press (pub.) 1988.
Wade, R., Gunning, P., Eddy, R., Shows, T., Kedes, L. Nucleotide sequence, tissue-specific expression, and chromosome location of human carbonic anhydrase III: the human CAIII gene is located on the same chromosome as the closely linked CAI and CAII genes. Proc. Nat. Acad. Sci. 83: 9571-9575, 1986. [PubMed: 3099285] [Full Text: https://doi.org/10.1073/pnas.83.24.9571]