ADCY5 wt Allele

Preferred Label : ADCY5 wt Allele;

NCIt synonyms : DSKOD; AC5; Adenylate Cyclase 5 wt Allele; FDFM;

NCIt definition : Human ADCY5 wild-type allele is located in the vicinity of 3q21.1 and is approximately 167 kb in length. This allele, which encodes adenylate cyclase type 5 protein, plays a role in G-protein coupled receptor signaling regulation. Single nucleotide polymorphisms in the gene may be associated with low birth weight and type 2 diabetes. Mutations in the gene are associated with neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD) and both autosomal dominant and autosomal recessive dyskinesia with orofacial involvement.;

GenBank Accession Number : U65473;

Détails

Origin ID

C213889;

OMIM relation
- Adenylate cyclase 5 [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Chemokine Signaling Pathway [NCIt concept]
- Dilated Cardiomyopathy Pathway [NCIt concept]
- Gap Junction Assembly Pathway [NCIt concept]
- Gastric Acid Secretion Pathway [NCIt concept]
- Gonadotropin-Releasing Hormone Signaling Pathway [NCIt concept]
- Melanogenesis Pathway [NCIt concept]
- Oocyte Meiosis Pathway [NCIt concept]
- Parkinson's Disease Pathway KEGG [NCIt concept]
- Progesterone-Mediated Oocyte Maturation Pathway [NCIt concept]
- Purine Metabolism Pathway [NCIt concept]
- Salivary Secretion Pathway [NCIt concept]
- Vascular Smooth Muscle Contraction Pathway [NCIt concept]
gene_plays_role_in_process
- Calcium Homeostasis [NCIt concept]
- G Protein-Coupled Receptor Signaling [NCIt concept]
- Nucleotide Biosynthesis Process [NCIt concept]
- Signal Transduction [NCIt concept]

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