Gene: GDI1
Alternate names for this Gene: 1A|GDIL|MRX41|MRX48|OPHN2|RABGD1A|RABGDIA|XAP-4
Gene Summary: GDP dissociation inhibitors are proteins that regulate the GDP-GTP exchange reaction of members of the rab family, small GTP-binding proteins of the ras superfamily, that are involved in vesicular trafficking of molecules between cellular organelles. GDIs slow the rate of dissociation of GDP from rab proteins and release GDP from membrane-bound rabs. GDI1 is expressed primarily in neural and sensory tissues. Mutations in GDI1 have been linked to X-linked nonspecific cognitive disability.
Gene is located in Chromosome: X
Location in Chromosome : Xq28
Description of this Gene: GDP dissociation inhibitor 1
Type of Gene: protein-coding
rs1557198821 in
GDI1 gene and
Muscle hypotonia
PMID 9106537 1997 A gene for dominant nonspecific X-linked mental retardation is located in Xq28.
PMID 9620768 1998 Mutations in GDI1 are responsible for X-linked non-specific mental retardation.
PMID 17304053 2007 MLPA as first screening method for the detection of microduplications and microdeletions in patients with X-linked mental retardation.
PMID 22002931 2011 Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability.
PMID 7615494 1995 Rab GDP dissociation inhibitor: putting rab GTPases in the right place.
PMID 7543319 1995 Expression patterns of two human genes coding for different rab GDP-dissociation inhibitors (GDIs), extremely conserved proteins involved in cellular transport.
PMID 9668174 1998 Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor.
PMID 20004760 2009 Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination.