Gene: [08q22/CA1] carbonic anhydrase I (erythrocytic A);
FUN | [1]
Catalyzes reversible hydratation of carbon dioxide: H(2)CO(3) = CO(2) +
H(2)O. Cofactor: zinc. [2] Systematic name: carbonate hydro-lyase." |
FAG | [1] Twelve forms of carbonic anhydrase are known, including:
I(A) - erythrocytic (this gene), denoted by letter B in early report
(Tashian-1963); II(B) - erythrocytic, denoted by letter C in early report
(Tashian-1963), see GEM:08q22/CA2; II(C) -
expressed predominantly in skeletal muscles, an old denotation is A
(Tashian-1963), see GEM:08q22/CA3; IV -
membrane-bound, expressed in kidney and lung, see GEM:17q23/CA4; V - mitochondrial, expressed in liver;
see GEM:16q243/CA5; VI - salivary (secreted);
see GEM:01p36/CA6; VII - nonspecified; see
GEM:16q221/CA7; VIII - related protein; see
GEM:08^/CA8; IX - form 9; see GEM:17q212/CA9 X - nonspecified; see GEM:00.0/CA10; XI - nonspecified; see GEM:00.0/CA11; XII - nonspecified; see GEM:15q22/CA12. [2] Clusterization of CA1, CA2, and CA3 in 8q22 is not proved rigorously: only CA2 is definitely mapped to segment q22 (Nakai-1987), whereas for CA1 (GDB:G00-119-047[:LOC='08 q13-22']) and CA3 (GDB:G00-119-740:LOC='08 q13-22') the Genome Data Base indicates a less definite localization, 8q13-22, with reference to Davis-1987. We believe that all three genes may be assigned to segment q22, because (1) CA genes are closely linked in many mammals, (2) human genes CA1 and CA3 are linked and located no more than 175 kb apart (Keaney-1987), and (3) the distance between 3'-end of CA1 and 5'-end of CA2 is as less as about 27 kb (Venua &: In: Rattazi & (Eds), Isozymes: current topics in biological and medical research, N-Y, Alan R. Liss Inc, 1987).[GEM:08q22/CA1:LOC='08 q22', GEM:08q22/CA2:LOC='08 q22', GEM:08q22/CA3:LOC='08 q22']" |
PAT | Manifested clinical forms of carbonic anhydrase deficiency are found only for isoform II (see GEM:08q22/CA2)." |
REF | LOC,CYG,MOL,PRO "Butterworth &: CCG, 40, (HGM8), 597, 1985 MUT,POG "Carter &: AJHG, 24, 330-338, 1972b MUT,POG "Carter ND: Hum Hered, 22, 539-541, 1972a LOC,CYG,MOL,PRO "Davis MB &: Somat Cell Mol Genet, 13, 173-178, 1987 EAG,PRI "De Simone &: Nature, 242, 55-56, 1973 LOC,CYG,MOL,PRO "Edwards &: Ann Hum Genet, 50, 123-129, 1986 MUT,POG "Goriki &: Biochem Genet, 17, 449-460, 1979 MUT,POG "Kageoka &: Biochem Genet, 19, 535-549, 1981 LIN,MAF,MOL "Kearney &: CCG, 46, (HGM9), 637, 1987 PAT,PHE "Kendall, Tashian: Science, 197, 471-472, 1977 MUT,POG "Omoto K &: AJHG, 33, 105-111, 1981 REV,IDN,FOG,POG "Tashian, Carter: Adv Hum Genet, 7, 1-56, 1976 HIS,COM,IDN,POG,EXP "Tashian &: Science, 140, 53-54, 1963 |
SWI | SWISSPROT: P00915 |
KEY | hem, ant, ion |
CLA | coding, basic |
LOC | 08 q22 |
MIM | MIM: 114800 |
EZN | ENZYME: 4.2.1.1 |
