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Gene : ADCY6 Homo sapiens

Name  ? adenylate cyclase 6 Cytological Location  12q13.12
Brief Description  adenylate cyclase 6
Description  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]
  • synonyms:
  • LCCS8,
  • NM_020983,
  • OTTHUMG00000170396,
  • AC6,
  • HGNC:237,
  • ADCY6,
  • AC6,
  • uc001rsh.5
  • identifiers:
  • 112,
  • ENSG00000174233,
  • ADCY6

Genome feature

Region: gene ? Length: 22896  
Location: 12:48766194-48789089 reverse strand Cyto location: 12q13.12

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1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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312 SNPs

5 Cross References

19 Data Sets

14 Homologues

0 Located Features

97 Rna Seq Results