Gene: ADCY1

Alternate names for this Gene: AC1|DFNB44

Gene Summary: 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.

Gene is located in Chromosome: 7

Location in Chromosome : 7p12.3

Description of this Gene: adenylate cyclase 1

Type of Gene: protein-coding

rs1521470 in ADCY1 gene and Bipolar Disorder PMID 29121268 2018 Association of Polygenic Score for Schizophrenia and HLA Antigen and Inflammation Genes With Response to Lithium in Bipolar Affective Disorder: A Genome-Wide Association Study.

rs587777497 in ADCY1 gene and DEAFNESS, AUTOSOMAL RECESSIVE 44 PMID 24482543 2014 Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish.

rs17567824 in ADCY1 gene and Muscular Dystrophy, Duchenne PMID 30014611 2018 Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy.

rs1521470 in ADCY1 gene and Schizophrenia PMID 29121268 2018 Association of Polygenic Score for Schizophrenia and HLA Antigen and Inflammation Genes With Response to Lithium in Bipolar Affective Disorder: A Genome-Wide Association Study.