RABGGTB

Chr 1

Rab geranylgeranyltransferase subunit beta

Also known as: GGTB

NCBI Gene: 5876 ENSG00000137955 UniProt: P53611 OMIM: 179080

The RABGGTB gene encodes the beta-subunit of Rab geranylgeranyl-transferase, which catalyzes the post-translational addition of geranylgeranyl groups to Rab GTPases and other proteins including FBXL2 and YKT6, essential for proper cellular membrane targeting and Golgi function. Mutations in RABGGTB cause autosomal recessive intellectual disability with seizures and microcephaly, typically presenting in early childhood. This represents a disorder of protein prenylation affecting multiple cellular trafficking pathways.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes the beta-subunit of the enzyme Rab geranylgeranyl-transferase (RabGGTase), which belongs to the protein prenyltransferase family. RabGGTase catalyzes the post-translational addition of geranylgeranyl groups to C-terminal cysteine residues of Rab GTPases. Three small nucleolar RNA genes are present in the intronic regions of this gene. Alternately spliced transcript variants have been observed for this gene. A pseudogene associated with this gene is located on chromosome 3. [provided by RefSeq, Jan 2013]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.68

LOEUF

GOF

Mechanism· predicted