Details of CCT5 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| CCT5 | CCTE | KIAA0098 | P48643 | TCPE_HUMAN
| --- | ENSG00000150753 | with spastic parapl |
Phenotypes
Abnormal appendicular skeleton morphology, Abnormality of central motor function, Abnormality of limb bone morphology, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of muscle morphology, Abnormality of pyramidal motor function, Abnormality of skeletal morphology, Abnormality of skeletal physiology, Abnormality of the central nervous system, Abnormality of the foot, Abnormality of the lower limb, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of the peripheral nervous system, Abnormality of the skeletal system, Abnormality of the spinal cord, Age of onset, All, Amyotrophy, Atrophy of the spinal cord, Atrophy/Degeneration affecting the central nervous system, Atrophy/Degeneration involving the spinal cord, Autosomal recessive inheritance, Babinski sign, Clonus, Distal amyotrophy, Distal sensory impairment, Distal sensory impairment of all modalities, Distal sensory loss of all modalities, Hyperreflexia, Hypertonia, Infantile onset, Juvenile onset, Lower limb spasticity, Mode of inheritance, Morphological abnormality of the central nervous system, Onset, Onset and clinical course, Osteomyelitis, Pace of progression, Paralysis due to lesions of the principle motor tracts, Paraplegia, Paraplegia/paraparesis, Peripheral axonal degeneration, Peripheral axonal neuropathy, Peripheral neuropathy, Phenotypic abnormality, Rapidly progressive, Sensory impairment, Sensory neuropathy, Spastic gait, Spastic paraplegia, Spasticity.
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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