Gene: [07q22/ACHE] YT blood group (Cartwright; MIM:112100); acetylcholinesterase;
COM | Telen and Whitsett (Telen-1992) identified a patient with the hitherto unreported Yt(a-b-) phenotype in whom studies allowed localization of the Yt antigens to the acetylcholinesterase molecule." |
FUN | The reaction catalyzed: acetylcholine + H(2)O = choline + acetate. |
FAG | [1] A gene
affecting the cholinesterase expression (derepressor) is presumed to be
located in chromosome 2: GEM:02^/RACH. [2] On other cholinesterase genes, see GEM:03q252/CHE1." |
REF | LOC,LIN "Coghlan &:
CCG, 51, (HGM10), 978, 1989 LOC "Ehrlich G &: Genomics, 13, 1192-1197, 1992 LOC "Getman DK &: AJHG, 51, 170-177, 1992 LOC,LIN "Zelinski T &: Genomics, 11, 165-167, 1991 |
SWI | SWISSPROT: P22303 |
KEY | neu, sign, ant, blgr, hem |
CLA | coding, basic |
LOC | 07 q22 |
MIM | MIM: 100740 |
EZN | ENZYME: 3.1.1.7 |
