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C201661Level 5

GIPC1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human GIPC1 wild-type allele is located in the vicinity of 19p13.12 and is approximately 18 kb in length. This allele, which encodes PDZ domain-containing protein GIPC1, may be involved in the upregulation of G protein-coupled receptor signaling via modulation of protein trafficking. Mutations in the gene are associated with oculopharyngodistal myopathy 2.

**Synonyms:** - C19orf3 - Chromosome 19 Open Reading Frame 3 Gene - GIPC - GIPC PDZ Domain Containing Family Member 1 wt Allele - GIPC PDZ Domain Containing Family, Member 1 Gene - GLUT1 C-Terminal Binding Protein Gene - GLUT1 C-Terminus-Binding Protein Gene - GLUT1CBP - Hs.6454 - IGF-1 Receptor Interacting Protein 1 Gene - IIP-1 - NIP - OPDM2 - RGS19IP1 - Regulator of G-Protein Signaling 19 Interacting Protein 1 Gene - SEMCAP - SYNECTIN - TIP-2

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