Metazoan Gene Interaction Project

	Metazoan complexes
	Emili & Marcotte labs

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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	Q9NS97	2EJM 2EJM	Methylcrotonoyl-C

Disease
Disease	OMIM id
Methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]: An autosomal recessive disorder of leucine catabolism. The phenotype is variable	usually in combination with a severe secondary carnitine deficiency. Note=The disease is caused by mutations affecting the gene represented in this e

Phenotypes

Abdominal symptom, Abnormal glucose homeostasis, Abnormal muscle tone, 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, 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.

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Orthologs in other species
M. musculus	D. melonogaster	C. elegans	S. purpuratus