Gene: [0Xq28/GDI1] GDP dissociation inhibitor 1; rab GDP-dissociation inhibitor, alpha (RABGDIA); mental retardation, X-linked 41 (MRX41); mental retardation, X-linked 48 (MRX48); [GDIL RABGDIA ]


MUT

D'Adamo-1997 found unique mutations in the GDI1 gene in affected members of the MRX41 (reported by Hamel-1996) and MRX48 (reported by des Portes-1997) families."

REL

GEM:10p15/GDI2.

REF

CLO,SEQ,LOC "Bachner D &: Hum Mol Genet, 4, 701-708, 1995
MUT "D'Adamo P &: AJHG, 61, (Suppl.), A11, 1997
LIN,LOC "des Portes V &: AJHG, 60, 903-909, 1997
LIN,LOC "Hamel BC &: Am J Med Genet, 64, 131-133, 1996
CLO,SEQ,LOC "Sedlacek Z &: Mammal Genome, 5, 633-639, 1994
CLO,SEQ,LOC "Sedlacek Z &: Hum Mol Genet, 2, N11, 1865-1869, 1993

KEY

neu, devd

CLA

coding, basic

LOC

0X q28

MIM

MIM: 300104

SYN

GDIL RABGDIA

Смотрите также:

  • HUGEN-GDP-ингибитор диссоциации
  • HUGEN-ингибитор диссоциации GDP
  • HUGEN-GDI
  • GDI HUGEN белки