DBH Gene - Dopamine Beta-Hydroxylase
Genetic and Functional Insights into DBH
Gene Information Card
| Symbol | DBH |
|---|---|
| Full Name | Dopamine Beta-Hydroxylase |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.2 |
| NCBI Gene ID | 1621 ncbi.nlm.nih.gov/gene/1621 |
| Ensembl ID | ENSG00000123454 |
| UniProt ID | P09172 |
| OMIM ID | 609312 |
| HGNC ID | 2689 |
| Aliases | DBH, DOPA BHY, dopamine beta-monooxygenase |
Description
The DBH gene encodes dopamine beta-hydroxylase, an enzyme that catalyzes the conversion of dopamine to norepinephrine, a critical neurotransmitter and hormone. This copper-containing monooxygenase is localized in synaptic vesicles of noradrenergic and adrenergic neurons and in chromaffin cells of the adrenal medulla. DBH deficiency leads to impaired norepinephrine synthesis, resulting in autonomic dysfunction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dopamine beta-hydroxylase deficiency | Loss-of-function mutations in DBH reduce or abolish enzyme activity, leading to norepinephrine deficiency and accumulation of dopamine. | ClinVar, OMIM |
| Orthostatic hypotension | DBH deficiency causes failure of sympathetic noradrenergic neurotransmission, resulting in severe orthostatic hypotension. | OMIM, NCBI Gene |
| Congenital adrenal hyperplasia-like phenotype | Impaired catecholamine synthesis may contribute to adrenal dysfunction. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adrenal gland | 45.2 | High |
| Brain (cerebellum) | 12.8 | Medium |
| Heart | 8.5 | Medium |
| Liver | 1.2 | Low |
| Kidney | 0.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 35.6 | Neuroblastoma cell line, high expression |
| SK-N-BE(2) | 28.4 | Neuroblastoma cell line |
| HEK293 | 0.5 | Low expression |
| HepG2 | 0.3 | Hepatocellular carcinoma, low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.291C>T (p.Arg97*) | Nonsense | Rare | Premature stop, loss of function |
| c.700G>A (p.Gly234Arg) | Missense | Rare | Reduced enzyme activity |
| c.1039C>T (p.Arg347Cys) | Missense | Rare | Impaired catalytic function |
| c.1462C>T (p.Arg488Trp) | Missense | Rare | Decreased stability and activity |
Mutation functional classification
Loss of Function (LOF)
Most DBH mutations are loss-of-function, leading to reduced or absent dopamine beta-hydroxylase activity and norepinephrine deficiency.
Gain of Function (GOF)
No gain-of-function mutations have been reported for DBH.
Dominant Negative (DN)
No dominant-negative mutations have been described; DBH deficiency is typically autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • catecholamine biosynthetic process (GO:0006584) | • monooxygenase activity (GO:0004497) |
| • copper ion binding (GO:0005507) | • dopamine beta-monooxygenase activity (GO:0008576) |
| • norepinephrine biosynthetic process (GO:0042423) | • integral component of membrane (GO:0016021) |
Pathways
• KEGG hsa00350: Tyrosine metabolism
• KEGG hsa04728: Dopaminergic synapse
• Reactome R-HSA-202410: Catecholamine biosynthesis
Protein Summary
Dopamine beta-hydroxylase (DBH) is a 603-amino acid copper-containing monooxygenase that converts dopamine into norepinephrine. It is localized to the lumen of synaptic vesicles and chromaffin granules. The enzyme requires ascorbate as a cofactor and molecular oxygen. DBH exists as a homotetramer and is essential for noradrenergic and adrenergic neurotransmission. Deficiency leads to autonomic failure with severe orthostatic hypotension.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DBH Knockout HEK293 Cell Line | EDJ-KQ2134 | Human | 1621 | Details Get a Quote |
| DBH Knockout HeLa Cell Line | EDJ-KQ53073 | Human | 1621 | Details Get a Quote |
| DBH Knockout A-549 Cell Line | EDJ-KQ61538 | Human | 1621 | Details Get a Quote |
| DBH Knockout HCT 116 Cell Line | EDJ-KQ70031 | Human | 1621 | Details Get a Quote |
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