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Details of HMGCL gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| HMGCL | --- | P35914 | HMGCL_HUMAN | 3155 | 2CW6 3MP3 3MP4 3MP5 2CW6 3MP3 3MP4 3MP5 | ENSG00000117305 | seizures | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]: An autosomal recessive disease affecting ketogenesis and L-leucine catabolism. The disease usually appears in the first year of life after a fasting period and its clinical acute symptoms include vomiting | metabolic acidosis | ||||||||
Phenotypes
3-Methylglutaconic aciduria, 3-Methylglutaric aciduria, Abnormal glucose homeostasis, Abnormality of acid-base homeostasis, Abnormality of amino acid metabolism, Abnormality of blood glucose concentration, Abnormality of carbohydrate metabolism/homeostasis, Abnormality of carboxylic acid metabolism, Abnormality of cell physiology, Abnormality of dicarboxylic acid metabolism, Abnormality of higher mental function, Abnormality of metabolism/homeostasis, Abnormality of mitochondrial metabolism, Abnormality of nitrogen compound homeostasis, Abnormality of temperature regulation, 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 mitochondrion, Abnormality of the nervous system, Abnormality of the urinary system, Abnormality of the urinary system physiology, Abnormality of urine homeostasis, Acidosis, Aciduria, All, Aminoaciduria, Autosomal recessive inheritance, Azotemia, Coma, Dicarboxylic aciduria, Fever, Glutaric aciduria, Hepatomegaly, Hyperammonemia, Hypoglycemia, Metabolic acidosis, Mode of inheritance, Organic aciduria, Phenotypic abnormality, Reduced consciousness/confusion, Somnolence, Visceromegaly.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||