DRG2

Chr 17

developmentally regulated GTP binding protein 2

NCBI Gene: 1819 ENSG00000108591 UniProt: P55039 OMIM: 602986

DRG2 encodes a GTP-binding protein that catalyzes the conversion of GTP to GDP and may play a role in translation when modified. Mutations cause autosomal recessive developmental and epileptic encephalopathy with microcephaly and progressive brain atrophy, typically presenting in infancy with seizures, developmental delays, and neurodegeneration.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a GTP-binding protein known to function in the regulation of cell growth and differentiation. Read-through transcripts containing this gene and a downstream gene have been identified, but they are not thought to encode a fusion protein. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jan 2012]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.89

LOEUF

Mechanism· predicted