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Details of AGPS gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| AGPS | --- | O00116 | ADAS_HUMAN | 8540
| ENSG00000018510
| Alkyldihydroxyacetonephosphate synthase, peroxisomal | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121]: A disease characterized by rhizomelic shortening of femur and humerus, vertebral disorders, cataract, cutaneous lesions and severe mental retardation. Note=The disease is caused by mutations affecting the gene represented in this entry. |
600121 |
