Gene: [12q24/HPD] 4-hydroxyphenylpyruvate dioxygenase; tyrosinemia, type III (4-hydroxyphenylpyruvate dioxygenase);


COM

Stenman-1995 narrowed the assignment somewhat to 12q24-qter.

GEN

The gene length: 30 kb; exons: 14 (Awata-1994).

REF

GEN,SEQ "Awata H &: Genomics, 23, 534-539, 1994
COD,SEQ,LOC "Ruetschi U &: Eur J Biochem, 213, 1081-1089, 1993
PRO,LOC "Stenman G &: CCG, 71, 374-376, 1995

SWI

SWISSPROT: P32754

KEY

aac, lip

CLA

coding, basic

LOC

12 q24

MIM

MIM: 276710

EZN

ENZYME: 1.13.11.27

Смотрите также:

  • n-гидроксифенилпируватгидроксилаза-HUGEN