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Details of VAPB 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 |
|
| VAPB | --- | O95292 | VAPB_HUMAN | 9217
| ENSG00000124164
| Vesicle-associated membrane protein-associated protein B/C | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| Amyotrophic lateral sclerosis 8 (ALS8) [MIM:608627]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry. |
608627 |
Spinal muscular atrophy, proximal, adult, autosomal dominant (SMAPAD) [MIM:182980]: A form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. SMAPAD is characterized by proximal muscle weakness that begins in the lower limbs and then progresses to upper limbs, onset in late adulthood (after third decade) and a benign course. Most of the patients remain ambulatory 10 to 40 years after clinical onset. Note=The disease is caused by mutations affecting the gene represented in this entry. |
182980 |
Phenotypes
Abnormality of movement, Abnormality of muscle physiology, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of the peripheral nervous system, All, Autosomal dominant inheritance, EMG abnormality, EMG: neuropathic changes, Fasciculations, Hyporeflexia, Involuntary movements, Mode of inheritance, Muscle weakness, Phenotypic abnormality, Proximal muscle weakness, Reduced tendon reflexes.
Orthologs in other species |
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| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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