background:
This gene encodes a member of the membrane-bound adenylyl cyclase enzymes. Adenylyl cyclases mediate G protein-coupled receptor signaling through the synthesis of the second messenger cAMP. Activity of the encoded protein is stimulated by the Gs alpha subunit of G protein-coupled receptors and is inhibited by protein kinase A, calcium and Gi alpha subunits. Single nucleotide polymorphisms in this gene may be associated with low birth weight and type 2 diabetes. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010].
Function:
This is a membrane-bound, calcium-inhibitable adenylyl cyclase.
Subunit:
Part of a complex containing AKAP5, ADCY6, PDE4C and PKD2. Interacts with RAF1.
Subcellular Location:
Membrane; Multi-pass membrane protein. Cell projection, cilium.
Post-translational modifications:
Phosphorylated by RAF1.
DISEASE:
Defects in ADCY5 are the cause of dyskinesia, familial, with facial myokymia (FDFM) [MIM:606703]. A disorder characterized by predominantly perioral and periorbital myokymia, and face, neck and upper limb dystonic/choreic movements. Initially paroxysmal and worsened by stress, the dyskinetic episodes become nearly constant by the end of the third decade of life, but in some individuals, they may diminish in frequency and severity at older ages.
Similarity:
Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.
Contains 2 guanylate cyclase domains.
Database links:
UniProtKB/Swiss-Prot: O95622.3
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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