Gene: [10q2/UROS] uroporphyrinogen-III synthase (UPS3-deficiency, Gunther type); porphyria, congenital erythropoetic (Gunther disease);
|
HET |
Several loci related to different types of porphyria are mapped in the human genome. On the classification of hereditary porphyrias, see GEM:01p34/UROD." |
|
REF |
PAT "Deybach &: J Lab Clin Med, 97, 551-558, 1981 TER "Pimstone &: New Engl J Med, 316, 390-393, 1987 TER "Piomelli &: New Engl J Med, 314, 1029-1031, 1986 PAT "Romeo G &: Biochem Genet, 4, 659-664, 1970a PAT "Romeo G &: Biochem Genet, 4, 719-726, 1970b CLO,COD,SEQ,EXP "Tsai SF &: PNAS, 85, 7049-7053, 1988 CLO,PRO "Tsai SF &: AJHG, 41, A242, 1987a MEB,MET,PHE,MGC "Tsai SF &: Anal Biochem, 166, 120-133, 1987b |
|
KEY |
hem, derm, mtbd |
|
CLA |
coding, basic |
|
LOC |
10 q25.2-26.3 |
|
MIM |
MIM: 263700 |
|
EZN |
ENZYME: 4.2.1.75 |
