GIPC1
Function
May be involved in G protein-linked signaling.
Involvement in disease
Oculopharyngodistal myopathy 2
OPDM2
A form of oculopharyngodistal myopathy, a muscle disorder characterized by progressive ptosis, external ophthalmoplegia, and weakness of the masseter, facial, pharyngeal, and distal limb muscles. The myopathological features are presence of rimmed vacuoles in the muscle fibers and myopathic changes of differing severity. OPDM2 inheritance pattern is autosomal dominant.
None
The disease may be caused by variants affecting the gene represented in this entry. GGC repeat expansions in the 5'-UTR ranging from 73 to 164 were reported in patients, compared with a normal range from 12 to 32 in unaffected individuals. Patient skeletal muscle showed similar protein levels to those of unaffected individuals.
Sequence Similarities
Belongs to the GIPC family.
Tissue Specificity
Widely expressed (PubMed:9770488). Expressed in skeletal muscle (at protein level) (PubMed:32413282).
Cellular localization
- Cytoplasm
- Membrane
- Peripheral membrane protein
Alternative names
C19orf3, GIPC, RGS19IP1, GIPC1, PDZ domain-containing protein GIPC1, GAIP C-terminus-interacting protein, RGS-GAIP-interacting protein, RGS19-interacting protein 1, Synectin, Tax interaction protein 2, TIP-2