Details of VCP gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| VCP | --- | P55072 | TERA_HUMAN | 7415
| Q2TAI5
| Q969G7 | Transitional endopla |
Phenotypes
Abnormal appendicular skeleton morphology, Abnormal axial skeleton morphology, Abnormality of alkaline phosphatase activity, Abnormality of circulating enzyme level, Abnormality of circulating protein level, Abnormality of higher mental function, Abnormality of limb bone morphology, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of muscle fibers, Abnormality of muscle morphology, Abnormality of muscle physiology, Abnormality of skeletal morphology, Abnormality of the central nervous system, Abnormality of the cerebrum, Abnormality of the curvature of the vertebral column, Abnormality of the forebrain, Abnormality of the musculature, Abnormality of the musculature of the limbs, Abnormality of the musculature of the upper limbs, Abnormality of the nervous system, Abnormality of the scapula, Abnormality of the shoulder girdle musculature, Abnormality of the skeletal system, Abnormality of the thorax, Abnormality of the vertebral column, Age of onset, All, Amyotrophy, Aplasia/Hypoplasia involving the central nervous system, Atrophy/Degeneration affecting the central nervous system, Atrophy/Degeneration affecting the cerebrum, Autosomal dominant inheritance, Back pain, Cerebral atrophy, Cerebral cortical atrophy, Cognitive impairment, Dementia, Difficulty climbing stairs, Difficulty walking, Distal amyotrophy, Dysphasia, Dystonia, Elevated alkaline phosphatase, Elevated alkaline phosphatase of bone origin, Elevated serum creatine phosphokinase, Elevated tissue non-specific alkaline phosphatase, Frontal cortical atrophy, Frontotemporal dementia, Functional motor problems., Gait disturbance, Hyperlordosis, Infantile onset, Limb muscle weakness, Limb-girdle muscle atrophy, Lumbar hyperlordosis, Mental deterioration, Mode of inheritance, Morphological abnormality of the central nervous system, Muscle weakness, Myopathy, Neurological speech impairment, Onset, Onset and clinical course, Pelvic girdle amyotrophy, Phenotypic abnormality, Proximal muscle weakness, Rimmed vacuoles, Scapular winging, Temporal cortical atrophy.
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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