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

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differentiation and development

The encoded protein of NXF3 has shortened LRR and ubiquitin-associated domains and its RDB is unable to bind RNA

ATP5F1 (ATP synthase

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