Biology:ADCY5

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Short description: Protein-coding gene in the species Homo sapiens


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

Adenylyl cyclase type 5 is an enzyme that in humans is encoded by the ADCY5 gene.[1][2]

Interactions

ADCY5 has been shown to interact with RGS2.[3]

Clinical significance

Mutations in ADCY5 are known to cause the following conditions:[4]

  • Dyskinesia with orofacial involvement, autosomal recessive (DSKOR);
  • Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD).

References

  1. "Cloning and sequence of partial cDNAs encoding the human type V and VI adenylyl cyclases and subsequent RNA-quantification in various tissues". Clin Chim Acta 285 (1–2): 155–61. October 1999. doi:10.1016/S0009-8981(99)00067-4. PMID 10481931. 
  2. "Entrez Gene: ADCY5 adenylate cyclase 5". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=111. 
  3. "Identification of RGS2 and type V adenylyl cyclase interaction sites". J. Biol. Chem. 278 (18): 15842–9. May 2003. doi:10.1074/jbc.M210663200. PMID 12604604. 
  4. "UniProt". https://www.uniprot.org/uniprotkb/O95622/entry. 

External links

Further reading