KEGG   VARIANT: 7299v1
Entry
7299v1                      Variant                                
Name
TYR deficiency
Type
Loss of function
Gene
TYR  tyrosinase [KO:K00505]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606933
Network
nt06028  Dopamine and serotonin metabolism
Disease
H00168  Oculocutaneous albinism
Reference
PMID:2511845
  Authors
Tomita Y, Takeda A, Okinaga S, Tagami H, Shibahara S
  Title
Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene.
  Journal
Biochem Biophys Res Commun 164:990-6 (1989)
DOI:10.1016/0006-291x(89)91767-1
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