Details of MCCC1 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| MCCC1 | MCCA | Q96RQ3 | MCCA_HUMAN | 56922
| ENSG00000078070
| Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| Methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]: An autosomal recessive disorder of leucine catabolism. The phenotype is variable, ranging from neonatal onset with severe neurological involvement to asymptomatic adults. There is a characteristic organic aciduria with massive excretion of 3- hydroxyisovaleric acid and 3-methylcrotonylglycine, usually in combination with a severe secondary carnitine deficiency. Note=The disease is caused by mutations affecting the gene represented in this entry. |
210200 |
Phenotypes
Abdominal symptom, Abnormal glucose homeostasis, Abnormality of acid-base homeostasis, Abnormality of blood glucose concentration, Abnormality of body weight, Abnormality of carbohydrate metabolism/homeostasis, Abnormality of central motor function, Abnormality of higher mental function, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of muscle physiology, Abnormality of nitrogen compound homeostasis, Abnormality of pyramidal motor function, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the central nervous system, Abnormality of the genitourinary system, Abnormality of the liver, Abnormality of the lung, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of the respiratory system, Abnormality of the urinary system, Abnormality of the urinary system physiology, Abnormality of urine homeostasis, Abnormal muscle tone, Acidosis, Aciduria, Acute hepatic steatosis, Acute hyperammonemia, All, Autosomal recessive inheritance, Azotemia, Cognitive impairment, Coma, Decreased body weight, Diminished movement, Episodic metabolic acidosis, Failure to thrive, Functional respiratory abnormality, Global developmental delay, Growth abnormality, Hepatic steatosis, Heterogeneous, Hyperammonemia, Hyperreflexia, Hypertonia, Hypoglycemia, Hypokinesia, Intellectual disability, Ketonuria, Lethargy, Metabolic acidosis, Mode of inheritance, Muscular hypotonia, Nausea and vomiting, Onset and clinical course, Opisthotonus, Phenotypic abnormality, Phenotypic variability, Reduced consciousness/confusion, Respiratory arrest, Respiratory insufficiency, Seizures, Spasticity, Vomiting.
