HDC
Histidine Decarboxylase
Gene Information Card
| Symbol | HDC |
|---|---|
| Full Name | Histidine Decarboxylase |
| Gene Type | Protein coding |
| Chromosomal Location | 15q21.2 |
| NCBI Gene ID | 3067 ncbi.nlm.nih.gov/gene/3067 |
| Ensembl ID | ENSG00000137869 |
| UniProt ID | P19113 |
| OMIM ID | 142704 |
| HGNC ID | 4855 |
| Aliases | HDC, histidine decarboxylase |
Description
The HDC gene encodes histidine decarboxylase, the enzyme responsible for catalyzing the decarboxylation of histidine to histamine. Histamine is a biogenic amine involved in local immune responses, gastric acid secretion, neurotransmission, and smooth muscle contraction. Mutations in HDC are associated with disorders of histamine metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Tourette syndrome | Loss-of-function variants reduce histamine levels in the brain, affecting neurotransmission and tic regulation. | OMIM: 137580; PMID: 22939634 |
| Gastric ulcer susceptibility | Altered histamine production affects gastric acid secretion, increasing ulcer risk. | ClinVar; PMID: 16826527 |
| Allergic disorders | Polymorphisms in HDC may influence histamine release and allergic response severity. | NCBI Gene; PMID: 19033658 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Stomach | 8.3 | Medium |
| Brain | 1.2 | Low |
| Skin | 0.5 | Low |
| Bone marrow | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 15.0 | High expression |
| HEK293 (embryonic kidney) | 2.1 | Low expression |
| K562 (leukemia) | 0.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1514C>T (p.Pro505Leu) | Missense | Rare | Reduced enzyme activity; associated with Tourette syndrome |
| c.613delG (p.Ala205Profs*12) | Frameshift | Rare | Loss of function; linked to histamine deficiency |
| c.1196G>A (p.Arg399Gln) | Missense | 0.01% | Decreased catalytic efficiency |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations lead to truncated, non-functional enzyme, reducing histamine synthesis.
Gain of Function (GOF)
Not reported in HDC.
Dominant Negative (DN)
Not reported in HDC.
View complete mutation data：
Gene Ontology (GO)
| • histidine decarboxylase activity (GO:0004398) | • histidine catabolic process (GO:0006548) |
| • histamine biosynthetic process (GO:0001696) | • cytoplasm (GO:0005737) |
Pathways
• Histidine metabolism (KEGG: hsa00340)
• Histamine synthesis and release (Reactome: R-HSA-114608)
Protein Summary
Histidine decarboxylase (UniProt P19113) is a homodimeric pyridoxal phosphate-dependent enzyme that converts L-histidine to histamine. It is expressed primarily in mast cells, basophils, gastric enterochromaffin-like cells, and histaminergic neurons. The enzyme is essential for histamine production, which mediates allergic reactions, gastric acid secretion, and neurotransmission.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HDC Knockout HEK293 Cell Line | EDJ-KQ4854 | Human | 3067 | Details Get a Quote |
| HDC Knockout HeLa Cell Line | EDJ-KQ53508 | Human | 3067 | Details Get a Quote |
| HDC Knockout A-549 Cell Line | EDJ-KQ61977 | Human | 3067 | Details Get a Quote |
| HDC Knockout HCT 116 Cell Line | EDJ-KQ70459 | Human | 3067 | Details Get a Quote |
