Metazoan complexes |
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Emili & Marcotte labs |
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Details of GALC 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 | |
| GALC | --- | P54803 | GALC_HUMAN | 2581 | ENSG00000054983 | Galactocerebrosidase | SPROT |
Disease | |||||||||
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Disease | OMIM id | ||||||||
Leukodystrophy, globoid cell (GLD) [MIM:245200]: An autosomal recessive disorder characterized by insufficient catabolism of several galactolipids that are important for normal myelin production. Four clinical forms are recognized. The infantile form accounts for 90% of cases. It manifests before six months of age with irritability, spasticity, arrest of motor and mental development, and bouts of temperature elevation without infection. This is followed by myoclonic jerks of arms and legs, oposthotonus, hypertonic fits, and mental regression, which progresses to a severe decerebrate condition with no voluntary movements and death from respiratory infections or cerebral hyperpyrexia before 2 years of age. Cases with later onset present with unexplained blindness, weakness and sensorimotor peripheral neuropathy, mental deterioration and death. Note=The disease is caused by mutations affecting the gene represented in this entry. | 245200 |
Orthologs in other species | |||||||||
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M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
Galc | --- | C29E4.10 | SPU_000872... |
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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