Gene: [09q/FRDA1] frataxin; phosphatidylinositol-4-phosphate 5-kinase, type ?; Friedreich ataxia 1;


COM

Chamberlain-1988, basing on the linkage data, assigned FAT gene provisionally to the short arm (09 p22-c), however, more recent reports took an account for the suppression of recombination in the neighborhood of centromere and suggested the location 09q13-21.1. See also the report of the Committee on Genetic Constitution (Smith-1989, p.202)."

REL

GEM:00.0/FRDA2.

REF

MUT "Bidichandani SI &: AJHG, 60, 1251-1256, 1997
CLO,SEQ,MUT "Campuzano V &: Science, 271, 1423-1427, 1996
CLO,EXP,FUN "Carvajal JJ &: Nature Genet, 14, 157-162, 1996
CLO,SEQ,FUN "Carvajal JJ &: Hum Mol Genet, 4, 1411-1419, 1995
LIN,MOL,FOG "Chamberlain S &: AJHG, 44, 518-521, 1989a
LIN,MOL "Chamberlain S &: CCG, 51, (HGM10), 975, 1989b
COM,LIN "Chamberlain S &: Nature, 334, 248-250, 1988
CLO,SEQ "Duclos F &: AJHG, 53, 63A, 1993a
CLO,SEQ "Duclos F &: PNAS, 90, 109-113, 1993b
LIN,MAG "Fujita R &: CCG, 51, (HGM10), 1001, 1989
LIN,MAG "Fujita R &: Genomics, 4, N1, 110-111, 1988
CLO,SEQ,MOU "Koutnikova H &: Nature Genet, 16, 345-351, 1997
FUN "Monros E &: AJHG, 61, 101-110, 1997
CLO,SEQ,LOC "Montermini L &: AJHG, 57, 1061-1067, 1995
LIN,MOL "Pandolfo &: Atti Assoc Genet Ital, 35, 251-252, 1989
FUN "Pianese L &: J Med Genet, 31, 133-135, 1994
LIN,MOL,FOG "Richter &: CCG, 51, (HGM10), 1066, 1989
LOC,FUN "Rodius F &: AJHG, 54, 1050-1059, 1994
LIN,MOL "Ross DA &: CCG, 51, (HGM10), 1069, 1989
FUN "Sirugo G &: Eur J Hum Genet, 1, 133-143, 1993
COM,LIN "Smith M, Simpson: CCG, 51, (HGM10), 202-225, 1989

KEY

neu, tri, lip

CLA

coding, basic

LOC

09 q13-21.1

MIM

MIM: 229300

EZN

ENZYME: 2.7.1.68?

Смотрите также:

  • FRDA ген атаксии Фридрейха
  • Gene: [08q13/TTPA] tocopherol (alpha) transfer protein; ataxia (Friedreich-like) with selective vitamin E deficiency (MIM:277460); [AVED ]
  • Ген FRDA