ADCY1 Chromosome 7
Adenylate cyclase 1
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What This Gene Does
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]
Gene Info
Gene Group
Adenylate cyclases
Locus Type
gene with protein product
Location
7p12.3
Ensembl
ENSG00000164742
Associated Conditions (2)
Autosomal recessive nonsyndromic hearing loss 44
Inborn genetic diseases
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140746527 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS74535389 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 44, Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 44 |