Details of HSPB1 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| HSPB1 | HSP27 | HSP28 | P04792 | HSPB1_HUMAN
| Q6FI47
| Q96C20 | Q9UC35 |
Phenotypes
Abnormal appendicular skeleton morphology, Abnormality of central motor function, Abnormality of limb bone morphology, Abnormality of movement, Abnormality of muscle morphology, Abnormality of muscle physiology, Abnormality of skeletal morphology, Abnormality of the central nervous system, Abnormality of the foot, Abnormality of the foot musculature, Abnormality of the hand, Abnormality of the lower limb, Abnormality of the motor neurons, Abnormality of the musculature, Abnormality of the musculature of the limbs, Abnormality of the musculature of the lower limbs, Abnormality of the nervous system, Abnormality of the peripheral nervous system, Abnormality of the skeletal system, Abnormality of the upper limb, Adult onset, Age of onset, All, Amyotrophy, Areflexia, Areflexia of lower limbs, Autosomal dominant inheritance, Difficulty walking, Distal amyotrophy, Distal lower limb muscle weakness, Distal muscle weakness, Distal sensory impairment, EMG abnormality, EMG: neuropathic changes, Fasciculations, Functional motor problems., Gait disturbance, Heterogeneous, Hyporeflexia, Hyporeflexia of lower limbs, Involuntary movements, Mode of inheritance, Muscle cramps, Muscle weakness, Onset, Onset and clinical course, Pace of progression, Paralysis, Paresis of extensor muscles of the big toe, Peripheral neuropathy, Pes cavus, Phenotypic abnormality, Reduced tendon reflexes, Sensory impairment, Slow progression, Steppage gait, Ulnar claw.
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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