Gene: [10q26/OAT] ornithine aminotransferase; gyrate atrophy of choroid/retina (OAT deficiency);


FAG

OAT-like sequences have been mapped to chr X (GEM:0Xp1123/OATL1 and GEM:0Xp112/OATL2). They are possibly pseudogenes. See also GEM:10q26/OATL3."

REF

LOC,MOL,FAG "Barrett DJ &: Invest Ophthal Vis Sci, 28, 1037-1041, 1987
MUT,MOL,PAT "Hotta Y &: AJHG, 44, 353-357, 1989
MUT,MOL,PAT "Inana G &: Invest Ophthal Vis Sci, 29, 3-7, 1988
CLO,SEQ,EXP "Inana G &: PNAS, 83, N5, 1203-1207, 1986
MUT,MOL,PAT "Kennaway NG &: AJHG, 44, 344-352, 1989
MUT,MOL,PAT "Mitchell GA &: PNAS, 86, 196-201, 1989
CLO,SEQ,EXP "Mitchell GA &: J Clin Invest, 81, 630-633, 1988a
SEQ,EXP,FAG,MOP,FUN,MEB "Mitchell GA &: JBC, 263, 14288-14295, 1988b
LOC "Mitchell GA &: AJHG, 39, A163, 1986
LOC,CYG,MEB,FAG "O'Donnell JJ &: AJHG, 43, 922-928, 1988
LOC "Ramesh &: Hum Genet, 76, 121-126, 1986
LOC,LIN "Wu J &: CCG, 48, 126-127, 1988
EVO,FAG "Zintz CB, Inana: Exp Eye Res, 50, N6, 759-770, 1990

KEY

mito, eye, neu, aac, mtbd

CLA

coding, basic

LOC

10 q26

MIM

MIM: 258870

EZN

ENZYME: 2.6.1.13

Смотрите также:

  • Орнитин аминотрансфераза. Строение гена OAT.
  • Орнитин аминотрансфераза. Локализация гена OAT.
  • орнитинкетокислотааминотрансфераза-HUGEN