Gene: [08q22/CA2] carbonic anhydrase II (erythrocytic B); osteopetrosis with renal tubular acidosis (CA-II deficiency); Guibaud-Vainsel-Sly syndrome (osteopetrosis; CA-II deficiency);
COM | HGM Catalogue indicates the CA2 localization in chr 8q13-22.1. |
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 | On the classification of carbonic anhydrase and CA genes, see GEM:08q22/CA1. |
PAT | The clinical triad - osteopetrosis, tubular (renal) acidosis, and calcification of basal ganglia (marble brain disease) - is known since 1972 as Guibaud-Vainsel syndrome. The carbonic anhydrase II deficiency as a cause of the pathology was indicated by Shapiro-1974 and determined by Sly-1983." |
HET | V.A.McKusick believes that Guibaud-Vainsel osteopetrosis is different from both the malignant recessive Albers-Schonberg osteopetrosis (MIM:259700) and its dominant benign form (MIM:166600; osteosclerosis fragilis generalisata). The MIM Catalogue indicates two other forms of osteopetrosis (MIM:259710 and MIM:259720), which genetic bases are not revealed." |
FOG | The inheritance is autosomal recessive. |
HIS | [1] MIM-88 described CA2 as a codominant marker under the
number 11481, with reference to osteopetrosis (as a consequence of this
enzyme deficiency), which was registered as a recessive marker with its own
number, 25973. MIM-90 and MIM-92 described CA2 under the number MIM:259730
(number 114810 was excluded). [2] Previously the product of CA2 was referred to as carbonic anhydrase C." |
REF | IDN,PAT,PHE,FOG
"Bourke &: Nephron, 28, 268-272, 1981 IDN,PAT,PHE,FOG "Guibaud &: Arch Fr Pediatr, 29, 269-286, 1972 MUT "Jones GL, Shaw: Hum Genet, 63, 392-399, 1983 MUT "Jones GL &: Biochem Genet, 20, 979-1000, 1982 PRO,LOC,POL,MOL "Lee BL &: Hum Genet, 69, 337-339, 1985 IDN,FUN,PEP "Lin K-TD, Deutsch: JBC, 249, 2329-2337, 1974 IDN,FUN,PEP "Lin K-TD, Deutsch: JBC, 247, 3761-3766, 1972 SEQ,EXP "Montgomery JC &: NAR, 15, N11, 4687, 1987 LOC,PRO "Nakai H &: CCG, 44, 234-235, 1987 IDN,PAT,PHE,FOG "Ohlsson &: Pediatrics, 77, 371-381, 1986 IDN,PAT,PHE,FOG "Ohlsson &: Dev Med Child Neurol, 22, 72-84, 1980 GEN,EXP,ENG "Shapiro &: Mol Cell Biol, 7, N12, 4589-4593, 1987 IDN,PAT,PHE,FOG "Shapiro &: J Clin Invest, 53, 59-63, 1974 IDN,PAT,PHE,FOG "Sly &: New Engl J Med, 313, 139-145, 1985 IDN,PAT,PHE,FOG "Sly &: PNAS, 80, 2752-2756, 1983 IDN,PAT,PHE,FOG "Sly &: AJHG, 24, 34A, 1972 MGC "Sundaram &: AJHG, 38, 125-136, 1986 IDN,PAT,PHE,FOG "Vainsel &: Acta Paediatr Scand, 61, 429-434, 1972 SEQ,EXP "Venta PJ &: BBA, 826, 195-201, 1986 PRO,LOC,POL,MOL "Venta PJ &: PNAS, 80, (Jul), 4437-4440, 1983 IDN,PAT,PHE,FOG "Whyte &: Am J Med, 69, 64-74, 1980 |
SWI | SWISSPROT: P00918 |
KEY | hem, ant, bone, neu, ren, ion |
CLA | coding, basic |
LOC | 08 q22 |
MIM | MIM: 259730 |
EZN | ENZYME: 4.2.1.1 |
