基因名称(Gene Name)
KIF5A NKHC1
免疫原
Synthesized peptide derived from human KIF5A AA range: 213-263
特异性
This antibody detects endogenous levels of KIF5A at Human/Mouse/Rat
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse serum by affinity-chromatography using specific immunogen.
背景
This gene encodes a member of the kinesin family of proteins. Members of this family are part of a multisubunit complex that functions as a microtubule motor in intracellular organelle transport. Mutations in this gene cause autosomal dominant spastic paraplegia 10. [provided by RefSeq, Jul 2008],
功能
disease:Defects in KIF5A are the cause of spastic paraplegia type 10 (SPG10) [MIM:604187]. SPG10 is a form of autosomal dominant hereditary spastic paraplegia (AD-HSP). HSP is a group of inherited degenerative spinal cord disorders characterized by a slow, gradual, progressive weakness and spasticity (stiffness) of the legs. Rate of progression and the severity of symptoms is 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.,domain:Composed of three structural domains: a large globular N-terminal domain which is responsible for the motor activity of kinesin (it hydrolyzes ATP and binds microtubule), a central alpha-helical coiled coi
