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Details of GBE1 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| GBE1 | --- | Q04446 | GLGB_HUMAN | 2632 | ENSG00000114480 | 1,4-alpha-glucan-branching enzyme | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Glycogen storage disease 4 (GSD4) [MIM:232500]: A metabolic disorder characterized by the accumulation of an amylopectin-like polysaccharide. The typical clinical manifestation is liver disease of childhood, progressing to lethal hepatic cirrhosis. Most children with this condition die before two years of age. However, the liver disease is not always progressive. No treatment apart from liver transplantation has been found to prevent progression of the disease. There is also a neuromuscular form of glycogen storage disease type 4 that varies in onset (perinatal, congenital, juvenile, or adult) and severity. Note=The disease is caused by mutations affecting the gene represented in this entry. | 232500 | Note=Neuromuscular perinatal glycogen storage disease type 4 is associated with non-immune hydrops fetalis, a generalized edema of the fetus with fluid accumulation in the body cavities due to non-immune causes. Non-immune hydrops fetalis is not a diagnosis in itself but a symptom, a feature of many genetic disorders, and the end-stage of a wide variety of disorders. | 232500 | Adult polyglucosan body disease (APBD) [MIM:263570]: A late-onset, slowly progressive disorder affecting the central and peripheral nervous systems. Patients typically present after age 40 years with a variable combination of cognitive impairment, pyramidal tetraparesis, peripheral neuropathy, and neurogenic bladder. Other manifestations include cerebellar dysfunction and extrapyramidal signs. The pathologic hallmark of APBD is the widespread accumulation of round, intracellular polyglucosan bodies throughout the nervous system, which are confined to neuronal and astrocytic processes. Note=The disease is caused by mutations affecting the gene represented in this entry. | 263570 | ||||
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Gbe1 | CG33138 | T04A8.7 | Sp-Gbe1 | ||||||
| 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 |
|---|---|---|---|---|
| ADI1 | GBE1 | 0.074166816 | ADI1 | GBE1 |
| DNM3 | GBE1 | 0.10045385 | DNM3 | GBE1 |
| CDA | GBE1 | 0.114292067 | CDA | GBE1 |
| NLE1 | GBE1 | 0.079461152 | NLE1 | GBE1 |
| DNM2 | GBE1 | 0.102014603 | DNM2 | GBE1 |
| GSS | GBE1 | 0.082986056 | GSS | GBE1 |
| PYGM | GBE1 | 0.078468156 | PYGM | GBE1 |
| PYGL | GBE1 | 0.132241924 | PYGL | GBE1 |
| GBE1 | MIF | 0.077056805 | GBE1 | MIF |
| GBE1 | ACO1 | 0.086365751 | GBE1 | ACO1 |
| UMPS | GBE1 | 0.098049927 | UMPS | GBE1 |
| PYGB | GBE1 | 0.163104899 | PYGB | GBE1 |