Metazoan complexes |
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Emili & Marcotte labs |
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Details of CSTB gene in Homo sapiens
IDs | |||||||||
---|---|---|---|---|---|---|---|---|---|
Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
| CSTB | CST6,STFB | P04080 | CYTB_HUMAN | 1476 | ENSG00000160213 | Cystatin-B | SPROT |
Disease | |||||||||
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Disease | OMIM id | ||||||||
Epilepsy, progressive myoclonic 1 (EPM1) [MIM:254800]: An autosomal recessive disorder characterized by severe, stimulus- sensitive myoclonus and tonic-clonic seizures. The onset, occurring between 6 and 13 years of age, is characterized by convulsions. Myoclonus begins 1 to 5 years later. The twitchings occur predominantly in the proximal muscles of the extremities and are bilaterally symmetrical, although asynchronous. At first small, they become late in the clinical course so violent that the victim is thrown to the floor. Mental deterioration and eventually dementia develop. Note=The disease is caused by mutations affecting the gene represented in this entry. | 254800 |
Phenotypes
Abnormality of central motor function, Abnormality of coordination, Abnormality of higher mental function, Abnormality of movement, Abnormality of muscle physiology, Abnormality of the central nervous system, Abnormality of the cerebellum, Abnormality of the hindbrain, Abnormality of the metencephalon, Abnormality of the musculature, Abnormality of the nervous system, Absence seizures, All, Ataxia, Autosomal recessive inheritance, Dialeptic seizures, Dysarthria, Generalized seizures, Generalized tonic-clonic seizures, Involuntary movements, Mode of inheritance, Morphological abnormality of the central nervous system, Myoclonus, Neurological speech impairment, Phenotypic abnormality, Seizures.
Orthologs in other species | |||||||||
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M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
Cstb | --- | --- | SPU_002693... |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
---|---|---|---|---|---|---|---|---|---|
FSCN1 | CSTB | 0.039956258 | FSCN1 | CSTB | cpx958 | no | no | no | Novel |
CSTB | MIF | 0.069287873 | CSTB | MIF | cpx958 | no | no | no | Novel |