C213889Level 5
ADCY5 wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human ADCY5 wild-type allele is located in the vicinity of 3q21.1 and is approximately 167 kb in length. This allele, which encodes adenylate cyclase type 5 protein, plays a role in G-protein coupled receptor signaling regulation. Single nucleotide polymorphisms in the gene may be associated with low birth weight and type 2 diabetes. Mutations in the gene are associated with neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD) and both autosomal dominant and autosomal recessive dyskinesia with orofacial involvement.
**Synonyms:** - AC5 - Adenylate Cyclase 5 wt Allele - DSKOD - FDFM
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