ADCY6 Antibody – Rabbit Polyclonal

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]

ADCY6: a membrane-associated enzyme that catalyzes the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). Expressed in normal thyroid and brain tissues, as well as some tumors; its expression is significantly higher in one hyperfunctioning thyroid tumor than in normal thyroid tissue. Alternative splicing generates 2 transcript variants.

Protein type: Membrane protein, integral; EC 4.6.1.1; Nucleotide Metabolism - purine; Lyase; Transporter; Transporter, aquaporin family; Membrane protein, multi-pass; Adenylyl cyclase

Chromosomal Location of Human Ortholog: 12q12-q13

Cellular Component: cilium; endosome; integral to membrane; intrinsic to plasma membrane; lipid raft; membrane; microvillus membrane; plasma membrane; sarcolemma

Molecular Function: adenylate cyclase activity; ATP binding; calcium- and calmodulin-responsive adenylate cyclase activity; metal ion binding; protein binding; protein kinase binding; receptor binding

Biological Process: activation of protein kinase A; adenylate cyclase activation; cAMP biosynthetic process; cAMP-mediated signaling; dopamine receptor signaling pathway; G-protein signaling, adenylate cyclase activating pathway; G-protein signaling, adenylate cyclase inhibiting pathway; regulation of vasodilation; renal water homeostasis

Disease: Lethal Congenital Contracture Syndrome 8