DCT (Dopachrome Tautomerase)
Key enzyme in melanin biosynthesis and pigmentation
Gene Information Card
| Symbol | DCT |
|---|---|
| Full Name | Dopachrome Tautomerase |
| Gene Type | protein-coding |
| Chromosomal Location | 13q32.1 |
| NCBI Gene ID | 1638 ncbi.nlm.nih.gov/gene/1638 |
| Ensembl ID | ENSG00000080166 |
| UniProt ID | P40126 |
| OMIM ID | 191275 |
| HGNC ID | 2709 |
| Aliases | TYRP2, TRP-2, DT |
Description
DCT (dopachrome tautomerase) encodes an enzyme involved in melanin biosynthesis, specifically catalyzing the conversion of dopachrome to 5,6-dihydroxyindole-2-carboxylic acid (DHICA). It is expressed primarily in melanocytes and plays a critical role in pigmentation. Mutations in DCT are associated with oculocutaneous albinism and melanoma susceptibility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Oculocutaneous Albinism Type 8 | Loss-of-function mutations reduce melanin production, leading to hypopigmentation and visual defects. | ClinVar, OMIM |
| Melanoma | Altered DCT expression and mutations contribute to melanomagenesis and tumor progression. | COSMIC, NCBI |
| Vitiligo | Autoimmune targeting of melanocyte antigens including DCT may lead to depigmentation. | NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 58.2 | High |
| Eye | 42.1 | High |
| Brain | 3.5 | Low |
| Testis | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SK-MEL-28 | 62.4 | Melanoma cell line |
| A375 | 55.8 | Melanoma cell line |
| HEK293 | 0.5 | Non-melanocyte control |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349*) | Nonsense | Rare | Loss of function, associated with albinism |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function, albinism |
| c.1211G>A (p.Arg404Gln) | Missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations lead to truncated or absent protein, reducing melanin synthesis.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • dopachrome isomerase activity | • melanin biosynthetic process |
| • copper ion binding | • metal ion binding |
| • melanosome |
Pathways
• Melanin biosynthesis
• Tyrosine metabolism
Protein Summary
Dopachrome tautomerase (DCT) is a 519-amino acid protein localized to melanosomes. It contains a copper-binding domain and catalyzes the tautomerization of dopachrome to DHICA, a key step in eumelanin synthesis. The protein is a member of the tyrosinase-related protein family and is essential for normal pigmentation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DCTD Knockout HEK293 Cell Line | EDJ-KQ3692 | Human | 1635 | Details Get a Quote |
| DCT Knockout HEK293 Cell Line | EDJ-KQ4428 | Human | 1638 | Details Get a Quote |
| DCTN1 Knockout HEK293 Cell Line | EDJ-KQ4432 | Human | 1639 | Details Get a Quote |
| DCTD Knockout A-549 Cell Line | EDJ-KQ26965 | Human | 1635 | Details Get a Quote |
| DCTD Knockout HCT 116 Cell Line | EDJ-KQ26967 | Human | 1635 | Details Get a Quote |
| DCTD Knockout HeLa Cell Line | EDJ-KQ26968 | Human | 1635 | Details Get a Quote |
| DCTN1 Knockout A-549 Cell Line | EDJ-KQ26977 | Human | 1639 | Details Get a Quote |
| DCTN1 Knockout HCT 116 Cell Line | EDJ-KQ26978 | Human | 1639 | Details Get a Quote |
| DCTN1 Knockout HeLa Cell Line | EDJ-KQ26979 | Human | 1639 | Details Get a Quote |
| DCTN3 Knockout HEK293 Cell Line | EDJ-KQ51058 | Human | 11258 | Details Get a Quote |
| DCTPP1 Knockout HEK293 Cell Line | EDJ-KQ51663 | Human | 79077 | Details Get a Quote |
| DCT Knockout HeLa Cell Line | EDJ-KQ53076 | Human | 1638 | Details Get a Quote |
| DCTN3 Knockout HeLa Cell Line | EDJ-KQ55615 | Human | 11258 | Details Get a Quote |
| DCTPP1 Knockout HeLa Cell Line | EDJ-KQ57142 | Human | 79077 | Details Get a Quote |
| DCT Knockout A-549 Cell Line | EDJ-KQ61542 | Human | 1638 | Details Get a Quote |
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