ADCY6 Chromosome 12
Adenylate cyclase 6
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What This Gene Does
This gene encodes a member of the adenylyl cyclase family of proteins, which are required for the synthesis of cyclic AMP. All members of this family have an intracellular N-terminus, a tandem repeat of six transmembrane domains separated by a cytoplasmic loop, and a C-terminal cytoplasmic domain. The two cytoplasmic regions bind ATP and form the catalytic core of the protein. Adenylyl cyclases are important effectors of transmembrane signaling pathways and are regulated by the activity of G protein coupled receptor signaling. This protein belongs to a small subclass of adenylyl cyclase proteins that are functionally related and are inhibited by protein kinase A, calcium ions and nitric oxide. A mutation in this gene is associated with arthrogryposis multiplex congenita. [provided by RefSeq, May 2015]
Gene Info
Gene Group
"Adenylate cyclases|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
12q13.12
Ensembl
ENSG00000174233
Associated Conditions (2)
Inborn genetic diseases
Lethal congenital contracture syndrome 8
Key Variants
RS201102889
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2498614478
Conflicting classifications of pathogenicity
Lethal congenital contracture syndrome 8, Inborn genetic diseases, Lethal congenital contracture syndrome 8
Health Risk
RS879253864
Conflicting classifications of pathogenicity
Lethal congenital contracture syndrome 8, Lethal congenital contracture syndrome 8
Health Risk
RS1941551290
Pathogenic
Lethal congenital contracture syndrome 8, Lethal congenital contracture syndrome 8
Health Risk
RS1941705738
Pathogenic
Lethal congenital contracture syndrome 8, Lethal congenital contracture syndrome 8
Health Risk
RS786204798
Pathogenic
Lethal congenital contracture syndrome 8, Lethal congenital contracture syndrome 8
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS201102889 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2498614478 | Health Risk | Conflicting classifications of pathogenicity | Lethal congenital contracture syndrome 8, Inborn genetic diseases, Lethal congenital contracture syndrome 8 |
| RS879253864 | Health Risk | Conflicting classifications of pathogenicity | Lethal congenital contracture syndrome 8, Lethal congenital contracture syndrome 8 |
| RS1941551290 | Health Risk | Pathogenic | Lethal congenital contracture syndrome 8, Lethal congenital contracture syndrome 8 |
| RS1941705738 | Health Risk | Pathogenic | Lethal congenital contracture syndrome 8, Lethal congenital contracture syndrome 8 |
| RS786204798 | Health Risk | Pathogenic | Lethal congenital contracture syndrome 8, Lethal congenital contracture syndrome 8 |