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Details of OXCT1 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| OXCT1 | OXCT | SCOT | P55809 | SCOT1_HUMAN
| 3DLX
3DLX
| ENSG00000083720 | characterized by ep |
Disease |
|---|
| Disease |
OMIM id |
| Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) [MIM:245050]: A disorder of ketone body metabolism |
601424 |
Phenotypes
Abdominal symptom, Abnormality of metabolism/homeostasis, Abnormality of the abdomen, Abnormality of the genitourinary system, Abnormality of the respiratory system, Abnormality of the urinary system, Abnormality of the urinary system physiology, Abnormality of urine homeostasis, Aciduria, All, Autosomal recessive inheritance, Functional respiratory abnormality, Ketonuria, Mode of inheritance, Nausea and vomiting, Phenotypic abnormality, Vomiting.
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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