Biology:ADCY10

From HandWiki
Short description: Protein-coding gene in the species Homo sapiens
See also: Soluble adenylyl cyclase
A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example


Adenylyl cyclase 10 also known as ADCY10 is an enzyme that, in humans, is encoded by the ADCY10 gene.[1]

Function

The protein encoded by this gene belongs to a distinct class of mammalian adenylyl cyclase that is soluble and insensitive to G protein or forskolin regulation. It is localized in the cytoplasm and is thought to function as a general bicarbonate sensor throughout the body. It may also play an important role in the generation of cAMP in spermatozoa, implying possible roles in sperm maturation through the epididymis, capacitation, hypermotility, and/or the acrosome reaction.[2]

Clinical significance

Mutations in the ADCY10 gene are associated with an increased risk of adsorptive hypercalciuria[1] and male infertility.[3]

References

  1. 1.0 1.1 "Mapping a gene defect in absorptive hypercalciuria to chromosome 1q23.3-q24". The Journal of Clinical Endocrinology and Metabolism 84 (11): 3907–3913. November 1999. doi:10.1210/jcem.84.11.6155. PMID 10566627. 
  2. "Entrez Gene: ADCY10". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=55811. 
  3. "ADCY10 frameshift variant leading to severe recessive asthenozoospermia and segregating with absorptive hypercalciuria". Human Reproduction 34 (6): 1155–1164. June 2019. doi:10.1093/humrep/dez048. PMID 31119281. 

External links

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.