CAA76314.1
[Other Products]
UniProt Secondary Accession #
Molecular Weight
53,940 Da
NCBI Official Full Name
paraplegin
UniProt Protein Name
Paraplegin
UniProt Synonym Protein Names
Spastic paraplegia 7 protein
UniProt Comments for SPG7
SPG7: Putative ATP-dependent zinc metalloprotease. Defects in SPG7 are the cause of spastic paraplegia autosomal recessive type 7 (SPG7). Spastic paraplegia is 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 cerebellar syndrome, supranuclear palsy, and cognitive impairment, particularly disturbance of attention and executive functions. Defects in SPG7 may cause autosomal recessive osteogenesis imperfecta (OI). Osteogenesis imperfecta defines a group of connective tissue disorders characterized by bone fragility and low bone mass. Clinical features of SPG7-related osteogenesis imperfecta include recurrent fractures, mild bone deformities, delayed tooth eruption, normal hearing and white sclera. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Cell adhesion; Chaperone; EC 3.4.24.-; Membrane protein, integral; Membrane protein, multi-pass; Mitochondrial; Motility/polarity/chemotaxis; Protease
Chromosomal Location of Human Ortholog: 16q24.3
Cellular Component: mitochondrion
Molecular Function: ATP-dependent peptidase activity; metalloendopeptidase activity; peptidase activity; protein binding; unfolded protein binding
Biological Process: cell adhesion; mitochondrion organization and biogenesis; nervous system development
Disease: Spastic Paraplegia 7, Autosomal Recessive
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
|