Metazoan complexes |
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Emili & Marcotte labs |
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Details of HLCS gene in Homo sapiens
IDs | |||||||||
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Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
| HLCS | --- | P50747 | BPL1_HUMAN | 3141 | ENSG00000159267 | Biotin--protein ligase Biotin--[methylmalonyl-CoA-carboxytransferase] ligase Biotin--[propionyl-CoA-carboxylase [ATP-hydrolyzing]] ligase Biotin--[methylcrotonoyl-CoA-carboxylase] ligase Biotin--[acetyl-CoA-carboxylase] ligase | SPROT |
Disease | |||||||||
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Disease | OMIM id | ||||||||
Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]: A neonatal form of multiple carboxylase deficiency, an autosomal recessive disorder of biotin metabolism, characterized by ketoacidosis, hyperammonemia, excretion of abnormal organic acid metabolites, and dermatitis. In holocarboxylase synthetase deficiency, clinical and biochemical symptoms improve dramatically with administration of biotin. Note=The disease is caused by mutations affecting the gene represented in this entry. | 253270 |
Orthologs in other species | |||||||||
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M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
Hlcs | Hcs | --- | SPU_010920 |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
---|---|---|---|---|---|---|---|---|---|
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
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