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Metazoan complexes |
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H.sapiens
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Details of GALK1 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| GALK1 | GALK | P51570 | GALK1_HUMAN | 2584 | ENSG00000108479 | Galactokinase | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Galactosemia II (GALCT2) [MIM:230200]: Autosomal recessive deficiency characterized by congenital cataracts during infancy and presenile cataracts in the adult population. The cataracts are secondary to accumulation of galactitol in the lenses. Note=The disease is caused by mutations affecting the gene represented in this entry. | 230200 | ||||||||
Phenotypes
Abnormality of carbohydrate metabolism/homeostasis, Abnormality of metabolism/homeostasis, Abnormality of the anterior segment of the eye, Abnormality of the eye, Abnormality of the lens, All, Autosomal recessive inheritance, Cataract, Galactose intolerance, Hyperbilirubinemia, Impairment of galactose metabolism, Mode of inheritance, Phenotypic abnormality.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Galk1 | --- | --- | Sp-Galk1 | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| GALK1 | GALM | 0.223873378 | GALK1 | GALM | cpx512 | no | no | no | Novel |