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 (By similarity).

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 Updated Annotation Release 109.20190607, GRCh38.p13) (NCBI)

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