Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary for 2.3.1.37 extracted from

  • du Plessis, N.; Kimberg, M.; Zaahl, M.G.; Sadie, A.; Venter, M.; van der Merwe, L.; Louw, A.; Warnich, L.
    Functional analysis of the 5 regulatory region of the 5-aminolevulinate synthase (ALAS1) gene in response to estrogen (2009), Cell. Mol. Biol., 55, 20-30.
    View publication on PubMed
Search for more literature for 2.3.1.37

Protein Variants

Protein Variants Comment Organism
additional information analysis of the 5' regulatory region of 5-aminolevulinate synthase gene in variegate porphyria patients heterozygous for the causative R59W mutation in the protoporphyrinogen oxidase gene. In the presence of estrogen and ERalpha, the wild-type -853C/-1253T allele induces a 47% increase in transcription, while the -853T/-1253A double mutant allele showed a 35% increase in transcription. The highest induction is observed for the mutant -853T/1253T allele generating an increase of 66% Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Expression

Organism Comment Expression
Homo sapiens analysis of the 5' regulatory region of 5-aminolevulinate synthase gene in variegate porphyria patients heterozygous for the causative R59W mutation in the protoporphyrinogen oxidase gene. In the presence of estrogen and ERalpha, the wild-type -853C/-1253T allele induces a 47% increase in transcription, while the -853T/-1253A double mutant allele showed a 35% increase in transcription. The highest induction is observed for the mutant -853T/1253T allele generating an increase of 66% up