CCDC88A wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human CCDC88A wild-type allele is located in the vicinity of 2p16.1 and is approximately 132 kb in length. This allele, which encodes girdin protein, plays a role in actin binding and the modulation of signaling through guanine nucleotide-binding proteins. Mutations in the gene are associated with progressive encephalopathy with edema, hypsarrhythmia and optic atrophy-like (PEHOL) syndrome.

**Synonyms:** - APE - Akt-Phosphorylation Enhancer Gene - Coiled-Coil Domain Containing 88A Gene - Coiled-Coil and HOOK Domain Protein 88A wt Allele - FLJ10392 - GIRDIN - GIV - GRDN - Galpha-Interacting Vesicle-Associated Protein Gene - Girders of Actin Filaments Gene - HkRP1 - KIAA1212 - PEHO - PEHOL