| Entry |
|
|---|
| Name |
|
|---|
| Type |
Loss of function
|
|---|
| Gene |
GCSH glycine cleavage system protein H [KO: K02437]
|
|---|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
|---|
| Variation |
|
|---|
| Network |
nt06033 Glycine, serine and arginine metabolism |
|---|
| Disease |
| H01894 | Multiple mitochondrial dysfunctions syndrome |
|
|---|
| Reference |
|
|---|
| Authors |
Koyata H, Hiraga K |
|---|
| Title |
The glycine cleavage system: structure of a cDNA encoding human H-protein, and partial characterization of its gene in patients with hyperglycinemias. |
|---|
| Journal |
Am J Hum Genet 48:351-61 (1991) |
|---|
| LinkDB |
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