Entity Details
Primary name |
FGGY_HUMAN |
Entity type |
UniProt |
Source |
Source Link |
Details
Accession | Q96C11 |
EntryName | FGGY_HUMAN |
FullName | FGGY carbohydrate kinase domain-containing protein |
TaxID | 9606 |
Evidence | evidence at protein level |
Length | 551 |
SequenceStatus | complete |
DateCreated | 2008-03-18 |
DateModified | 2021-06-02 |
Subcellular Location
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Domains
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Domain | Name | Category | Type |
IPR000577 | Carbohydrate kinase, FGGY | Family | Family |
IPR006003 | FGGY carbohydrate kinase, pentulose kinase | Family | Family |
IPR018484 | Carbohydrate kinase, FGGY, N-terminal | Domain | Domain |
IPR018485 | Carbohydrate kinase, FGGY, C-terminal | Domain | Domain |
IPR043129 | ATPase, nucleotide binding domain | Family | Homologous superfamily |
Diseases
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Disease ID | Source | Name | Description |
105400 | OMIM | Amyotrophic lateral sclerosis 1 (ALS1) | A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. Disease susceptibility is associated with variants affecting the gene represented in this entry. |
Interactions
0 interactions
Interactor | Partner | Sources | Publications | Link |