Gene: [08q13/TTPA] tocopherol (alpha) transfer protein; ataxia (Friedreich-like) with selective vitamin E deficiency (MIM:277460); [AVED ]
CAG | Friedreich ataxia is mapped to Chr 9 (GEM:09q/FRDA1). |
REF | CLO,SEQ,STR,LOC "Arita M &: Biochem J, 306, 437-443, 1995 LOC "Ben Hamida C &: Nature Genet, 5, 195-200, 1993 LOC "Doerflinger N &: AJHG, 56, 1116-1124, 1995 CLO,SEQ,STR,MUT "Gotoda T &: New Engl J Med, 333, 1313-1318, 1995 CLO,SEQ,GEN,MUT "Hentati A &: Ann Neurol, 39, 295-300, 1996 CLO,SEQ,STR,MUT "Ouahchi K &: Nature Genet, 9, 141-145, 1995 |
SWI | SWISSPROT: P49638 |
KEY | trp |
CLA | coding, basic |
LOC | 08 q13 |
MIM | MIM: 600415 |
SYN | AVED |
