DCT Chromosome 13
Dopachrome tautomerase
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What This Gene Does
Predicted to enable dopachrome isomerase activity. Involved in response to blue light. Located in intracellular membrane-bounded organelle and plasma membrane. Implicated in oculocutaneous albinism. [provided by Alliance of Genome Resources, Apr 2025]
Gene Info
Gene Group
Tyrosinase family
Locus Type
gene with protein product
Location
13q32.1
Ensembl
ENSG00000080166
Associated Conditions (3)
Age related macular degeneration 7
Oculocutaneous albinism type 8
Albinism
Key Variants
RS1407995
association
Age related macular degeneration 7, Age related macular degeneration 7
Health Risk
RS2501672395
Likely pathogenic
Health Risk
RS1885298359
Pathogenic
Oculocutaneous albinism type 8, Oculocutaneous albinism type 8
Health Risk
RS201692579
Pathogenic
Oculocutaneous albinism type 8, Oculocutaneous albinism type 8
Health Risk
RS758102115
Pathogenic
Oculocutaneous albinism type 8, Oculocutaneous albinism type 8
Health Risk
RS764655568
Pathogenic
Oculocutaneous albinism type 8, Oculocutaneous albinism type 8
Health Risk
RS1882493359
Pathogenic/Likely pathogenic
Albinism, Oculocutaneous albinism type 8, Albinism
Health Risk
RS1885297366
Pathogenic/Likely pathogenic
Albinism, Oculocutaneous albinism type 8, Albinism
Health Risk
RS370729240
Pathogenic/Likely pathogenic
Albinism, Oculocutaneous albinism type 8, Albinism
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1407995 | Health Risk | association | Age related macular degeneration 7, Age related macular degeneration 7 |
| RS2501672395 | Health Risk | Likely pathogenic | — |
| RS1885298359 | Health Risk | Pathogenic | Oculocutaneous albinism type 8, Oculocutaneous albinism type 8 |
| RS201692579 | Health Risk | Pathogenic | Oculocutaneous albinism type 8, Oculocutaneous albinism type 8 |
| RS758102115 | Health Risk | Pathogenic | Oculocutaneous albinism type 8, Oculocutaneous albinism type 8 |
| RS764655568 | Health Risk | Pathogenic | Oculocutaneous albinism type 8, Oculocutaneous albinism type 8 |
| RS1882493359 | Health Risk | Pathogenic/Likely pathogenic | Albinism, Oculocutaneous albinism type 8, Albinism |
| RS1885297366 | Health Risk | Pathogenic/Likely pathogenic | Albinism, Oculocutaneous albinism type 8, Albinism |
| RS370729240 | Health Risk | Pathogenic/Likely pathogenic | Albinism, Oculocutaneous albinism type 8, Albinism |