痉挛性截瘫蛋白7/基质细胞粘附调节蛋白抗体
规格：1尘驳/1尘濒
英文名： SPG7
别名： CAR; Paraplegin; Cell adhesion regulator; Cell matrix adhesion regulator; CMAR; Paraplegin; PGN; Spastic paraplegia 7 (pure and complicated autosomal recessive); Spastic paraplegia 7 homolog (human);
分子量： 88kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：笔辞濒测肠濒辞苍补濒
亚型：滨驳骋
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human Parapleg
交叉反应：Human, Mouse, Rat,
细胞定位：细胞浆 细胞膜
痉挛性截瘫蛋白7/基质细胞粘附调节蛋白抗体产物介绍：background: Paraplegin is a 795 amino acid metalloprotease that is a member of the AAA protein family. Localized to the mitochrondrial membrane and expressed throughout the body, Paraplegin is a multi-pass membrane protein that is thought to be involved in signal transduction and chaperone-like activities in the mitochrondria. Defects in the gene encoding Paraplegin are the cause of spastic paraplegia type 7 (SPG7), a form of autosomal recessive hereditary spastic paraplegia (AR-HSP). HSPs are degenerative spinal cord disorders that are characterized by muscle spasms, stiffness in the legs and, in some cases, incontinence. Recent studies suggest that SPG7 may be a mitochondrial-based disease, as mutations in the Paraplegin gene lead to ragged-red fibers, oxidase-negative fibers and intense succinate dehydrogenase-stained areas of the mitochrondria. These mitochondrial dysfunctions lead to axonal degeneration and impaired axonal transport, thus causing the neurodegeneration seen in HSPs. Function: SPG7 is a metalloprotease protein that is a member of the AAA (ATPases associated 痉挛性截瘫蛋白7/基质细胞粘附调节蛋白抗体with a variety of cellular activities) protein family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. Two transcript variants encoding distinct isoforms have been identified for this gene. Mutations associated with this gene cause autosomal recessive spastic paraplegia 7. Subunit: Interacts with AFG3L2; the interaction is required forthe efficient assembly of mitochondrial complex I. Subcellular Location: Mitochondrion membrane; Multi pass membrane protein. Tissue Specificity: Ubiquitous. DISEASE: Defects in SPG7 are the cause of spastic paraplegiaautosomal recessive type 7 (SPG7) [MIM:607259]. Spastic paraplegiais a degenerative spinal cord disorder characterized by a slow,gradual, progressive weakness and spasticity of the lower limbs.SPG7 is a complex form. Additional clinical features are cerebellarsyndrome, supranuclear palsy, and cognitive impairment,particularly disturbance of attention and executive functions. Note=Defects in SPG7 may cause autosomal 痉挛性截瘫蛋白7/基质细胞粘附调节蛋白抗体recessiveosteogenesis imperfecta (OI). Osteogenesis imperfecta defines agroup of connective tissue disorders characterized by bonefragility and low bone mass. Clinical features of SPG7-relatedosteogenesis imperfecta include recurrent fractures, mild bonedeformities, delayed tooth eruption, normal hearing and whitesclera. Similarity: In the N-terminal section; belongs to the AAA ATPasefamily. In the C-terminal section; belongs to the peptidaseM41 family. Database links: Entrez Gene: 6687 Human Entrez Gene: 234847 Mouse Omim: 602783 Human SwissProt: Q9UQ90 Human SwissProt: Q3ULF4 Mouse Unigene: 185597 Human Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
痉挛性截瘫蛋白7/基质细胞粘附调节蛋白抗体产物应用：WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
研究领域：心血管 细胞生物 神经生物学 细胞粘附分子
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid