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
|
Family Member
|
1
|
Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Passage Frozen |
5 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
|
Remarks |
Spastic paraparesis; 2 affected sibs |
dbSNP |
dbSNP ID: 17877 |
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 |
AMINOMETHYLTRANSFERASE, INCLUDED; AMT, INCLUDED |
|
GLYCINE DECARBOXYLASE, INCLUDED; GLDC, INCLUDED |
|
GLYCINE DEHYDROGENASE, INCLUDED |
|
HYPERGLYCINEMIA, ISOLATED NONKETOTIC, TYPE I |
|
HYPERGLYCINEMIA, ISOLATED NONKETOTIC, TYPE II |
|
NKH1GLYCINE CLEAVAGE SYSTEM P PROTEIN, INCLUDED; GCSP, INCLUDED |
|
NKH2GLYCINE CLEAVAGE SYSTEM T PROTEIN, INCLUDED; GCST, INCLUDED |
Passage Frozen |
5 |
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 |
- |
|
|