KEGG   VARIANT: 1638v1
Entry
1638v1                      Variant                                
Name
DCT deficiency
Type
Loss of function
Gene
DCT  dopachrome tautomerase [KO:K01827]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 191275
Network
nt06028  Dopamine and serotonin metabolism
Disease
H00168  Oculocutaneous albinism
Reference
PMID:33100333
  Authors
Pennamen P, Tingaud-Sequeira A, Gazova I, Keighren M, McKie L, Marlin S, Gherbi Halem S, Kaplan J, Delevoye C, Lacombe D, Plaisant C, Michaud V, Lasseaux E, Javerzat S, Jackson I, Arveiler B
  Title
Dopachrome tautomerase variants in patients with oculocutaneous albinism.
  Journal
Genet Med 23:479-487 (2021)
DOI:10.1038/s41436-020-00997-8
LinkDB

DBGET integrated database retrieval system