DDT (D-Dopachrome Tautomerase)
Gene encoding a tautomerase enzyme involved in melanin biosynthesis and inflammatory signaling
Gene Information Card
| Symbol | DDT |
|---|---|
| Full Name | D-dopachrome tautomerase |
| Gene Type | protein-coding |
| Chromosomal Location | 22q11.23 |
| NCBI Gene ID | 1652 ncbi.nlm.nih.gov/gene/1652 |
| Ensembl ID | ENSG00000100297 |
| UniProt ID | P30046 |
| OMIM ID | 602750 |
| HGNC ID | 2732 |
| Aliases | D-dopachrome decarboxylase, DDT, MIF-2, D-dopachrome tautomerase |
Description
The DDT gene encodes D-dopachrome tautomerase, an enzyme that catalyzes the conversion of D-dopachrome to 5,6-dihydroxyindole (DHI) in the melanin biosynthesis pathway. It also functions as a cytokine-like factor (MIF-2) involved in inflammatory responses and glucocorticoid regulation. The gene is located on chromosome 22q11.23 and is closely related to macrophage migration inhibitory factor (MIF).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Melanoma | DDT expression may influence melanin production and tumor progression; tautomerase activity linked to pigmentation | PMID: 12368274 |
| Inflammatory diseases | DDT (MIF-2) acts as a pro-inflammatory cytokine; implicated in sepsis, rheumatoid arthritis | PMID: 21258337 |
| Schizophrenia | 22q11.23 deletion syndrome includes DDT; altered expression may contribute to neurodevelopmental phenotypes | PMID: 18568016 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 0.8 | Low |
| Liver | 0.5 | Low |
| Kidney | 0.3 | Low |
| Brain | 0.2 | Low |
| Lung | 0.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.6 | Low expression |
| HeLa | 0.5 | Low expression |
| A375 (melanoma) | 1.2 | Moderate expression |
| THP-1 (monocyte) | 0.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of start codon; predicted loss of function |
| c.104C>T (p.Thr35Met) | missense | <0.01% | Unknown significance; rare variant |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants (e.g., p.Met1?) may disrupt translation initiation, leading to loss of tautomerase activity.
Gain of Function (GOF)
No documented gain-of-function mutations in DDT.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Melanin biosynthesis (R-HSA-5663205)
• MIF-mediated glucocorticoid regulation (R-HSA-6785807)
Protein Summary
D-dopachrome tautomerase (DDT) is a 118-amino-acid protein (12.5 kDa) that belongs to the tautomerase superfamily. It catalyzes the conversion of D-dopachrome to 5,6-dihydroxyindole (DHI), a key step in melanin biosynthesis. DDT also functions as a cytokine (MIF-2) that binds to CD74 and activates ERK1/2 signaling, promoting pro-inflammatory responses. The protein is structurally similar to macrophage migration inhibitory factor (MIF) and shares tautomerase activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DDTL Knockout HEK293 Cell Line | EDJ-KQ13113 | Human | 100037417 | Details Get a Quote |
| DDTL Knockout A-549 Cell Line | EDJ-KQ42420 | Human | 100037417 | Details Get a Quote |
| DDTL Knockout HCT 116 Cell Line | EDJ-KQ42421 | Human | 100037417 | Details Get a Quote |
| DDTL Knockout HeLa Cell Line | EDJ-KQ42422 | Human | 100037417 | Details Get a Quote |
| DDT Knockout HEK293 Cell Line | EDJ-KQ50230 | Human | 1652 | Details Get a Quote |
| DDT Knockout HeLa Cell Line | EDJ-KQ53080 | Human | 1652 | Details Get a Quote |
| DDT Knockout A-549 Cell Line | EDJ-KQ61545 | Human | 1652 | Details Get a Quote |
| DDT Knockout HCT 116 Cell Line | EDJ-KQ70038 | Human | 1652 | Details Get a Quote |
