KEGG   VARIANT: 7306v1
Entry
7306v1                      Variant                                
Name
TYRP1 deficiency
Type
Loss of function
Gene
TYRP1  5,6-dihydroxyindole-2-carboxylic acid oxidase precursor [KO:K00506]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 115501
Network
nt06028  Dopamine and serotonin metabolism
nt06550  Lysosome biogenesis
Disease
H00168  Oculocutaneous albinism
Reference
PMID:16704458
  Authors
Rooryck C, Roudaut C, Robine E, Musebeck J, Arveiler B
  Title
Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient.
  Journal
Pigment Cell Res 19:239-42 (2006)
DOI:10.1111/j.1600-0749.2006.00298.x
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