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

BRENDA support

Literature summary for 2.1.1.2 extracted from

  • Mercimek-Mahmutoglu, S.; Ndika, J.; Kanhai, W.; de Villemeur, T.B.; Cheillan, D.; Christensen, E.; Dorison, N.; Hannig, V.; Hendriks, Y.; Hofstede, F.C.; Lion-Francois, L.; Lund, A.M.; Mundy, H.; Pitelet, G.; Raspall-Chaure, M.; Scott-Schwoerer, J.A.; Szakszon, K.; Valayannopoulos, V.; William, M.; Salomons, G.S.
    Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene (2014), Hum. Mutat., 35, 462-469.
    View publication on PubMed

Cloned(Commentary)

Cloned (Comment) Organism
genotyping, overexpression of wild-type and mutant enzymes as EGFP-fusion proteins in a primary enzyme-deficient human fibroblast cell line, homozygous for a frameshift mutation Homo sapiens

Protein Variants

Protein Variants Comment Organism
A54P naturally occuring mutation from enzyme deficiency patients, no recombinant expression of the mutant achieved, inactive mutant Homo sapiens
A74P naturally occuring mutation from enzyme deficiency patients, no recombinant expression of the mutant achieved, inactive mutant Homo sapiens
C169Y naturally occuring mutation from enzyme deficiency patients, no recombinant expression of the mutant achieved Homo sapiens
D135N naturally occuring mutation from enzyme deficiency patients, inactive mutant Homo sapiens
G68C naturally occuring mutation from enzyme deficiency patients, no recombinant expression of the mutant achieved Homo sapiens
H147Y naturally occuring mutation from enzyme deficiency patients, almost inactive mutant Homo sapiens
H51P naturally occuring mutation from enzyme deficiency patients, no recombinant expression of the mutant achieved Homo sapiens
L166P naturally occuring mutation from enzyme deficiency patients, inactive mutant Homo sapiens
L197P naturally occuring mutation from enzyme deficiency patients, no recombinant expression of the mutant achieved, inactive mutant Homo sapiens
N92D naturally occuring mutation from enzyme deficiency patients, inactive mutant Homo sapiens
P8T naturally occuring mutation from enzyme deficiency patients, the mutant shows similar activity as the wild-type enzyme Homo sapiens
R208P naturally occuring mutation from enzyme deficiency patients, almost inactive mutant Homo sapiens
T136M naturally occuring mutation from enzyme deficiency patients, inactive mutant Homo sapiens
W45R naturally occuring mutation from enzyme deficiency patients, inactive mutant Homo sapiens
Y27H naturally occuring mutation from enzyme deficiency patients, the mutant shows similar activity as the wild-type enzyme Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens Q14353
-
-

Source Tissue

Source Tissue Comment Organism Textmining
fibroblast primary Homo sapiens
-

Synonyms

Synonyms Comment Organism
GAMT
-
Homo sapiens
guanidinoacetate methyltransferase
-
Homo sapiens

General Information

General Information Comment Organism
malfunction guanidinoacetate methyltransferase deficiency, GAMT-D, is an autosomal recessively inherited disorder of creatine biosynthesis. Creatine deficiency on cranial proton magnetic resonance spectroscopy, and elevated guanidinoacetate levels in body fluids are the biomarkers of GAMT-D, 50 different mutations in the GAMT gene have been identified with missense variants being the most common, phenotypes overview Homo sapiens