Target intelligence / Profile preview

Rab GDP dissociation inhibitor alpha (GDI1)

Target
GDI1
Molecular classification
Regulatory protein, GDP-dissociation inhibitor, Rab-interacting protein
01

Overview

Rab GDP dissociation inhibitor alpha (GDI1) is a regulatory protein that inhibits the dissociation of GDP from Rab proteins, thereby preventing their activation and release from membranes. GDI1 primarily regulates vesicular trafficking by controlling GDP/GTP cycling and membrane association of Rab family small GTPases, essential for intracellular transport. GDI1 is most strongly expressed in neural and sensory tissues, and its dysfunction is linked with X-linked intellectual disability. Known aliases include RABGDIA, OPHN2, and XAP-4, among others. There are no currently known drugs directly targeting GDI1, and it is not established as a direct clinical biomarker, but its genetic mutation is a recognized cause of cognitive disorder

Other names
GDP dissociation inhibitor 1RABGDIAOPHN2Oligophrenin-2XAP-4GDILGuanosine diphosphate dissociation inhibitor 1Rab GDI alphaProtein XAP-4Rab GDP-dissociation inhibitor, alphaMRX41MRX48XLID41FLJ41411testis secretory sperm-binding protein Li 208a
02

Biological functions

Regulation of GDP/GTP exchange on Rab GTPasesVesicular traffickingControl of membrane association of Rab proteinsNeuronal and sensory tissue function
03

Disease associations

Intellectual disability (X-linked non-syndromic)Other neurodevelopmental disorders
04

Safety considerations

Mutations associated with cognitive impairmentPossible neurological dysfunctions

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