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

BRENDA support

Literature summary for 2.5.1.61 extracted from

  • Schneider-Yin, X.; Ulbrichova, D.; Mamet, R.; Martasek, P.; Marohnic, C.C.; Goren, A.; Minder, E.I.; Schoenfeld, N.
    Characterization of two missense variants in the hydroxymethylbilane synthase gene in the Israeli population, which differ in their associations with acute intermittent porphyria (2008), Mol. Genet. Metab., 94, 343-346.
    View publication on PubMed
Search for more literature for 2.5.1.61

Cloned(Commentary)

Cloned (Comment) Organism
expressed in Escherichia coli BL21 cells Homo sapiens

Protein Variants

Protein Variants Comment Organism
T59I 80.6% residual activity compared to the wild type enzyme Homo sapiens
V215M 19.4% residual activity compared to the wild type enzyme Homo sapiens

KM Value [mM]

KM Value [mM] KM Value Maximum [mM] Substrate Comment Organism Structure
0.0042
-
 porphobilinogen wild type enzyme, in 50 mM Tris, 0.1% BSA, 0.1% Triton, pH 8.2, at 37°C Homo sapiens
0.0066
-
 porphobilinogen mutant enzyme T59I, in 50 mM Tris, 0.1% BSA, 0.1% Triton, pH 7.8, at 37°C Homo sapiens
0.07
-
 porphobilinogen mutant enzyme V215M, in 50 mM Tris, 0.1% BSA, 0.1% Triton, pH 8.0, at 37°C Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Purification (Commentary)

Purification (Comment) Organism
glutathione Sepharose 4B column chromatography Homo sapiens

Source Tissue

Source Tissue Comment Organism Textmining
blood
-
 Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
4 porphobilinogen + H2O
-
 Homo sapiens hydroxylmethylbilane + 4 NH3
-
 ?

Synonyms

Synonyms Comment Organism
EC 4.3.1.8 formerly Homo sapiens
HMBS
-
 Homo sapiens

pH Optimum

pH Optimum Minimum pH Optimum Maximum Comment Organism
7.8
-
 mutant enzyme T59I Homo sapiens
8
-
 mutant enzyme V215M Homo sapiens
8.2
-
 wild type enzyme Homo sapiens