ADCY6 Chromosome 12

Adenylate cyclase 6
6 variants 6 Health Risk

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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
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
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