EC Number |
Recommended Name |
Source Tissue |
Reference |
---|
1.1.1.205 | IMP dehydrogenase |
lymphoblast |
- |
347919, 347951 |
1.1.1.41 | isocitrate dehydrogenase (NAD+) |
lymphoblast |
- |
700359 |
1.1.99.2 | L-2-hydroxyglutarate dehydrogenase |
lymphoblast |
- |
699377 |
1.17.4.1 | ribonucleoside-diphosphate reductase |
lymphoblast |
Molt 4F cells |
437918 |
1.2.1.24 | succinate-semialdehyde dehydrogenase (NAD+) |
lymphoblast |
- |
698174, 710898, 741570 |
1.5.1.15 | methylenetetrahydrofolate dehydrogenase (NAD+) |
lymphoblast |
- |
392077 |
2.1.1.2 | guanidinoacetate N-methyltransferase |
lymphoblast |
- |
660695 |
2.1.1.2 | guanidinoacetate N-methyltransferase |
lymphoblast |
L197P mutation in exon 6, reduces the activity of guanidinoacetate N-methyltransferase |
676024 |
2.1.1.67 | thiopurine S-methyltransferase |
lymphoblast |
- |
702159 |
2.1.2.10 | aminomethyltransferase |
lymphoblast |
- |
662879 |
2.1.4.1 | glycine amidinotransferase |
lymphoblast |
- |
661505, 673131 |
2.3.1.142 | glycoprotein O-fatty-acyltransferase |
lymphoblast |
- |
486323 |
2.3.1.168 | dihydrolipoyllysine-residue (2-methylpropanoyl)transferase |
lymphoblast |
- |
644843 |
2.3.1.45 | N-acetylneuraminate 7-O(or 9-O)-acetyltransferase |
lymphoblast |
- |
686985 |
2.3.1.45 | N-acetylneuraminate 7-O(or 9-O)-acetyltransferase |
lymphoblast |
from bone marrow |
686985 |
2.3.1.B44 | actin N-acetyltransferase |
lymphoblast |
- |
756706 |
2.4.1.109 | dolichyl-phosphate-mannose-protein mannosyltransferase |
lymphoblast |
lymphoblast-based enzymatic assays are accurate and useful methods to select patients harbouring POMT1 and POMT2 mutations among those with a suspected or confirmed alpha-dystroglycanopathy |
689197 |
2.4.2.14 | amidophosphoribosyltransferase |
lymphoblast |
diploid wild 2 line, tissue culture |
489752 |
2.5.1.22 | spermine synthase |
lymphoblast |
- |
738421 |
2.5.1.22 | spermine synthase |
lymphoblast |
from patients with Snyder-Robinson syndrome and non-affected individuals |
721528 |
2.5.1.61 | hydroxymethylbilane synthase |
lymphoblast |
- |
489942, 489945 |
2.5.1.61 | hydroxymethylbilane synthase |
lymphoblast |
variegate porphyria lymphoblasts |
489948 |
2.6.1.13 | ornithine aminotransferase |
lymphoblast |
- |
637122 |
2.6.1.16 | glutamine-fructose-6-phosphate transaminase (isomerizing) |
lymphoblast |
- |
675194 |
2.7.1.113 | deoxyguanosine kinase |
lymphoblast |
- |
640563 |
2.7.1.113 | deoxyguanosine kinase |
lymphoblast |
acute T lymphoblastic leukemia molt-4 cells |
640560 |
2.7.1.113 | deoxyguanosine kinase |
lymphoblast |
CEM cells |
640559, 640568 |
2.7.1.20 | adenosine kinase |
lymphoblast |
T-lymphoblast cell lines MILT 4F, CCRF CEM and RPMI 8402, B-lymphoblast cell lines BALL 1 and EBV (Epstein-Barr-virus)-transformed B-lymphoblast |
641079 |
2.7.1.74 | deoxycytidine kinase |
lymphoblast |
- |
675605 |
2.7.1.74 | deoxycytidine kinase |
lymphoblast |
T-lymphoblasts, cell lines MOLT 4F, CCRF, CEM and RPMI 8402, B-lymphoblasts cell lines BALL 1 and EBV (Epstein-Barr-virus) transformed B-lymphoblasts |
641079 |
2.7.10.2 | non-specific protein-tyrosine kinase |
lymphoblast |
IM-9 lymphoblast |
490131 |
2.7.11.4 | [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase |
lymphoblast |
- |
738618 |
2.7.4.21 | inositol-hexakisphosphate 5-kinase |
lymphoblast |
- |
722717 |
2.7.6.1 | ribose-phosphate diphosphokinase |
lymphoblast |
- |
642733 |
2.7.7.12 | UDP-glucose-hexose-1-phosphate uridylyltransferase |
lymphoblast |
- |
642844 |
2.7.7.31 | DNA nucleotidylexotransferase |
lymphoblast |
- |
643219 |
2.7.7.31 | DNA nucleotidylexotransferase |
lymphoblast |
from leukemic patients |
643221 |
2.7.7.31 | DNA nucleotidylexotransferase |
lymphoblast |
multiple forms from patients with acute lymphoblastic leukemia |
643198, 643205, 643207 |
2.7.7.31 | DNA nucleotidylexotransferase |
lymphoblast |
multiple forms from patients with chronic myelogenous leukemia |
643198 |
2.7.7.31 | DNA nucleotidylexotransferase |
lymphoblast |
multiple MW forms from leukemic cells |
643196 |
2.7.7.7 | DNA-directed DNA polymerase |
lymphoblast |
- |
643594 |
2.7.8.17 | UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase |
lymphoblast |
- |
645369, 671199 |
3.1.1.53 | sialate O-acetylesterase |
lymphoblast |
- |
715136 |
3.1.22.1 | deoxyribonuclease II |
lymphoblast |
- |
134287 |
3.1.4.45 | N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase |
lymphoblast |
- |
135491 |
3.2.1.22 | alpha-galactosidase |
lymphoblast |
- |
678069 |
3.2.1.45 | glucosylceramidase |
lymphoblast |
derived from Gaucher patients homozygous for N370S (non-neuronophatic form) or L444P (neuronophatic form) |
715298 |
3.2.1.52 | beta-N-acetylhexosaminidase |
lymphoblast |
- |
393689, 393694 |
3.4.22.62 | caspase-9 |
lymphoblast |
increased caspase 9 activity in lymphoblasts with heterozygous and homozygous Huntington's disease mutation |
666238 |
3.4.22.62 | caspase-9 |
lymphoblast |
increased caspase-9 activity in lymphoblasts with heterozygous and homozygous Huntington's disease mutation |
666238 |
3.4.24.56 | insulysin |
lymphoblast |
- |
683668 |
3.4.24.B15 | PHEX peptidase |
lymphoblast |
- |
755092 |
3.4.25.1 | proteasome endopeptidase complex |
lymphoblast |
- |
720802 |
3.5.4.4 | adenosine deaminase |
lymphoblast |
- |
209621 |
4.2.1.75 | uroporphyrinogen-III synthase |
lymphoblast |
- |
702860 |
4.2.99.18 | DNA-(apurinic or apyrimidinic site) lyase |
lymphoblast |
- |
648638 |
4.3.2.2 | adenylosuccinate lyase |
lymphoblast |
cultured |
34462 |
6.1.1.12 | aspartate-tRNA ligase |
lymphoblast |
- |
676127 |
6.1.1.22 | asparagine-tRNA ligase |
lymphoblast |
- |
745056 |
6.3.4.5 | argininosuccinate synthase |
lymphoblast |
parental cell line MGL8B2 and canavanine-resistant cell line MGL8D1 |
1583 |
6.3.5.4 | asparagine synthase (glutamine-hydrolysing) |
lymphoblast |
- |
676297 |
6.5.1.1 | DNA ligase (ATP) |
lymphoblast |
- |
1906 |