ADCY10 explained

See also: Soluble adenylyl cyclase.

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]

External links

Further reading

Notes and References

  1. Reed BY, Heller HJ, Gitomer WL, Pak CY . 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 . 10566627 . 10.1210/jcem.84.11.6155 . free .
  2. Web site: Entrez Gene: ADCY10 .
  3. Akbari A, Pipitone GB, Anvar Z, Jaafarinia M, Ferrari M, Carrera P, Totonchi M . ADCY10 frameshift variant leading to severe recessive asthenozoospermia and segregating with absorptive hypercalciuria . Human Reproduction . 34 . 6 . 1155–1164 . June 2019 . 31119281 . 10.1093/humrep/dez048 .