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Gene : DBH Homo sapiens

Name  ? dopamine beta-hydroxylase Cytological Location  9q34.2
Brief Description  dopamine beta-hydroxylase
Description  The protein encoded by this gene is an oxidoreductase belonging to the copper type II, ascorbate-dependent monooxygenase family. The encoded protein, expressed in neuroscretory vesicles and chromaffin granules of the adrenal medulla, catalyzes the conversion of dopamine to norepinephrine, which functions as both a hormone and as the main neurotransmitter of the sympathetic nervous system. The enzyme encoded by this gene exists exists in both soluble and membrane-bound forms, depending on the absence or presence, respectively, of a signal peptide. Mutations in this gene cause dopamine beta-hydroxylate deficiency in human patients, characterized by deficits in autonomic and cardiovascular function, including hypotension and ptosis. Polymorphisms in this gene may play a role in a variety of psychiatric disorders. [provided by RefSeq, Aug 2017]
  • synonyms:
  • DBM,
  • DBH,
  • uc004cel.4,
  • HGNC:2689,
  • DBM,
  • X13256,
  • ORTHYP1,
  • dopamine beta-hydroxylase (dopamine beta-monooxygenase),
  • OTTHUMG00000020878,
  • NM_000787,
  • dopamine beta-monooxygenase
  • identifiers:
  • 1621,
  • ENSG00000123454,
  • DBH

Genome feature

Region: gene ? Length: 22967  
Location: 9:133636363-133659329 Cyto location: 9q34.2

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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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3753 SN Ps

5 Cross References

20 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results