QuickView for DBH (gene)

Gene Symbol:

DBH Homo sapiens

Full name:

dopamine beta-hydroxylase

Synonyms:

DBM, dopamine beta-hydroxylase, dopamine beta-hydroxylase (dopamine beta-monooxygenase)

Genomic Location:

Chr 9: 135491306-135514287

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 neurotrans...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Macaca mulatta ,  Bos taurus ,  Danio rerio ,  Gallus gallus ,  Canis lupus familiaris ,  Pan troglodytes

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TTGCWCAAY_CEBPB_02 ,  YTATTTTNR_MEF2_02 ,  CEBP_Q2_01 ,  CEBPB_02 ,  CAGCTG_AP4_Q5

Cytogenetic Map:

9q34.2

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