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

鸯铗痂蝈 蜞赕:

  • Gene: [03p2/COLQ] collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase;