Function
Plays a role in mitochondrial dynamics. In immortalized renal cyst cells, converts fragmented mitochondria to a filamentous shape.
Biological Context
Disease Association: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) : An autosomal dominant disorder characterized by renal cysts, liver cysts and intracranial aneurysm. Clinical variability is due to differences in the rate of loss of glomerular filtration, the age of reaching end-stage renal disease and the occurrence of hypertension, symptomatic extrarenal cysts, and subarachnoid hemorrhage from intracranial 'berry' aneurysm. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Recombinant Human Polycystin-1 (PKD1), partial is a recombinant protein from Homo sapiens (Human), expressed in E.coli, covering amino acids 25-636aa, with N-terminal 6xHis-tagged and C-terminal 6xHis-tagged tag, molecular weight 66.5kDa, purity Greater than 85% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications.
