Description:
HYPERGLYCINEMIA, ISOLATED NONKETOTIC, TYPE I
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Amino Acid Metabolism |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
3 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Remarks |
Clinically affected |
| dbSNP |
dbSNP ID: 15785 |
| Gene Cards |
AMT |
|
GLDC |
| Gene Ontology |
GO:0004047 aminomethyltransferase activity |
|
GO:0004375 glycine dehydrogenase (decarboxylating) activity |
|
GO:0005489 electron transporter activity |
|
GO:0005739 mitochondrion |
|
GO:0005960 glycine cleavage complex |
|
GO:0005961 glycine dehydrogenase complex (decarboxylating) |
|
GO:0006546 glycine catabolism |
|
GO:0008483 transaminase activity |
|
GO:0016491 oxidoreductase activity |
|
GO:0016740 transferase activity |
| NCBI Gene |
Gene ID:2731 |
|
Gene ID:275 |
| NCBI GTR |
238300 GLYCINE DECARBOXYLASE; GLDC |
|
238310 AMINOMETHYLTRANSFERASE; AMT |
| OMIM |
238300 GLYCINE DECARBOXYLASE; GLDC |
|
238310 AMINOMETHYLTRANSFERASE; AMT |
| Omim Description |
GLYCINE DECARBOXYLASE, INCLUDED; GLDC, INCLUDED |
| |
GLYCINE DEHYDROGENASE, INCLUDED |
| |
HYPERGLYCINEMIA, ISOLATED NONKETOTIC, TYPE I |
| |
NKH1GLYCINE CLEAVAGE SYSTEM P PROTEIN, INCLUDED; GCSP, INCLUDED |
| |
AMINOMETHYLTRANSFERASE, INCLUDED; AMT, INCLUDED |
| |
HYPERGLYCINEMIA, ISOLATED NONKETOTIC, TYPE II |
| |
NKH2GLYCINE CLEAVAGE SYSTEM T PROTEIN, INCLUDED; GCST, INCLUDED |
| Passage Frozen |
3 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
|
|