Details of PC gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| PC | --- | P11498 | PYC_HUMAN | 5091
| ENSG00000173599
| Pyruvate carboxylase | severe neonatal or |
Disease |
|---|
| Disease |
OMIM id |
| Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]: Leads to lactic acidosis |
severe neonatal or type B |
Phenotypes
Abnormal glucose homeostasis, Abnormal muscle tone, Abnormality of acid-base homeostasis, Abnormality of alanine metabolism, Abnormality of amino acid metabolism, Abnormality of blood glucose concentration, Abnormality of carbohydrate metabolism/homeostasis, Abnormality of carboxylic acid metabolism, Abnormality of glycolysis, Abnormality of higher mental function, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of muscle physiology, Abnormality of pyruvate family amino acid metabolism, Abnormality of renal physiology, Abnormality of serum amino acid levels, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the central nervous system, Abnormality of the cerebral cortex, Abnormality of the cerebrum, Abnormality of the forebrain, Abnormality of the genitourinary system, Abnormality of the liver, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of the periventricular white matter, Abnormality of the urinary system, Abnormality of the urinary system physiology, Acidosis, Age of onset, All, Atrophy/Degeneration affecting the central nervous system, Autosomal recessive inheritance, Clonus, Cognitive impairment, Congenital onset, Global developmental delay, Hepatomegaly, Hyperalaninemia, Hypoglycemia, Increased serum lactate, Increased serum pyruvate, Intellectual disability, Lactic acidosis, Leukoencephalopathy, Mitochondrial inheritance, Mode of inheritance, Morphological abnormality of the central nervous system, Muscular hypotonia, Neuronal loss in central nervous system, Neuronal loss in the cerebral cortex, Onset, Onset and clinical course, Periventricular leukomalacia, Phenotypic abnormality, Proximal renal tubular acidosis, Renal tubular acidosis, Renal tubular dysfunction, Seizures, Visceromegaly.
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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