ADCY1 gene

adenylate cyclase 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a member of the of adenylate cyclase gene family that is primarily expressed in the brain. This protein is regulated by calcium/calmodulin concentration and may be involved in brain development. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

From UniProt:

Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling. Mediates responses to increased cellular Ca(2+)/calmodulin levels (By similarity). May be involved in regulatory processes in the central nervous system. May play a role in memory and learning. Plays a role in the regulation of the circadian rhythm of daytime contrast sensitivity probably by modulating the rhythmic synthesis of cyclic AMP in the retina.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Deafness, autosomal recessive 44

From UniProt:

Deafness, autosomal recessive, 44 (DFNB44): A form of non-syndromic deafness characterized by prelingual profound hearing loss affecting all frequencies. [MIM:610154]

Cytogenetic Location: 7p12.3, which is the short (p) arm of chromosome 7 at position 12.3

Molecular Location: base pairs 45,574,140 to 45,723,116 on chromosome 7 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 7p12.3, which is the short (p) arm of chromosome 7 at position 12.3
  • AC1
  • DFNB44