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

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