Gene: [16q221/TAT] tyrosine aminotransferase (tyrosinemia II, Oregon type); keratosis palmoplantaris, Richner-Hanhart (tyrosinemia II); tyrosinosis, oculocutaneous type (Richner-Hanhart' keratosis);
FAG | MIM:314350 mentions also some tyrosine aminotransferase regulator. Controversial data on its mapping to chr X were reported (Croce-1973 and Sellem-1981)." |
HET | MIM registered, in addition, tyrosinemia I, hepatorenal type (as a recessive marker, MIM:276700). This is determined by fumarylacetoacetase (EC:3.7.1.2) deficiency, which gene is not identified yet. Tyrosinemia III is also described (as a secondary marker, MIM:276710). This is assumed to be determined by 4-hydroxyphenylpyruvate oxidase deficiency; the gene for this protein is also unknown yet." |
REF | LOC,LIN,MAP "Barton DE &: Hum Genet, 72, 221-224, 1986 PAT,MEB "Bohnert, Anton-Lamprecht: J Invest Derm, 79, 68-74, 1982 LOC,LIN,MAP "Callen &: Genomics, 2, 144-153, 1988 FAG "Croce &: PNAS, 70, 1268-1272, 1973 PAT,MEB "Goldsmith &: J Invest Derm, 73, 530-532, 1979 HIS,PAT,PHE,FOG "Hanhart E: Dermatologica, 94, 286-308, 1947 TER "Machino &: J Am Acad Derm, 9, 533-539, 1983 LOC,LIN,MAP "Natt E &: Hum Genet, 72, 225-228, 1986 HIS,PAT,PHE,FOG "Richner H: Klin Monatsbl Augenheilk, 100, 580-588, 1938 FAG "Sellem C &: CCG, 30, 47-49, 1981 POL,MOL,PRO,PAG "Westphal EM &: Hum Genet, 79, 260-264, 1988 LOC,LIN,MAP "Westphal EM &: Genomics, 1, 313-319, 1987 |
SWI | SWISSPROT: P17735 |
KEY | aac, derm, eye |
CLA | coding, basic |
LOC | 16 q22.1 |
MIM | MIM: 276600 |
EZN | ENZYME: 2.6.1.5 |
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