IRK13 Polyclonal Antibody, 100ul Serum & Sample Tubes Mutations in this gene cause

Mutations in this gene cause nephronophthisis (NPHP)| an autosomal recessive kidney disease characterized by tubular basement membrane disruption| interstitial lymphohistiocytic cell infiltration| and development of cysts at the corticomedullary border of the kidneys

PDP2 is a mitochondrial protein that functions as a phosphatase and is involved in the enzymatic resetting of the pyruvate dehydrogenase complex

ATP5F1 (ATP synthase

this enzyme may play an important role in regulating the switch between different energy-producing pathways

differentiation and development

IRK13 Polyclonal Antibody, 100ul Serum & Sample Tubes Mutations in this gene causeThis gene encodes a member of the inwardly rectifying potassium channel family of proteins. Members of this family form ion channel pores that allow potassium ions to pass into a cell. The encoded protein belongs to a subfamily of low signal channel conductance proteins that have a low dependence on potassium concentration. Mutations in this gene are associated with snowflake vitreoretinal degeneration. Alternate splicing results in multiple