Details of KIF5A gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| KIF5A | NKHC1 | Q12840 | KIF5A_HUMAN | 3798
| ENSG00000155980
| Kinesin heavy chain isoform 5A | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| Spastic paraplegia 10, autosomal dominant (SPG10) [MIM:604187]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. Note=The disease is caused by mutations affecting the gene represented in this entry. |
604187 |
Phenotypes
Abnormal appendicular skeleton morphology, Abnormal axial skeleton morphology, Abnormality of central motor function, Abnormality of limb bone morphology, Abnormality of muscle physiology, Abnormality of pyramidal motor function, Abnormality of skeletal morphology, Abnormality of the bladder, Abnormality of the central nervous system, Abnormality of the curvature of the vertebral column, Abnormality of the foot, Abnormality of the genitourinary system, Abnormality of the lower limb, Abnormality of the lower urinary tract, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of the peripheral nervous system, Abnormality of the skeletal system, Abnormality of the urinary system, Abnormality of the vertebral column, All, Autosomal dominant inheritance, Babinski sign, Functional abnormality of the bladder, Heterogeneous, Hyperreflexia, Hypertonia, Impaired vibration sensation in the lower limbs, Impaired vibratory sensation, Limb muscle weakness, Lower limb muscle weakness, Lower limb spasticity, Mode of inheritance, Muscle weakness, Onset, Onset and clinical course, Pace of progression, Paralysis due to lesions of the principle motor tracts, Paraplegia, Paraplegia/paraparesis, Peripheral neuropathy, Pes cavus, Phenotypic abnormality, Progressive disorder, Scoliosis, Sensory impairment, Spastic gait, Spasticity, Spastic paraplegia, Urinary bladder sphincter dysfunction, Urinary incontinence, Urinary urgency.
