NDUFV2 Polyclonal Antibody, 50ul Monoclonal Antibody Preparation Several alternatively spliced transcript variants

Several alternatively spliced transcript variants encoding different membrane-bound and soluble isoforms have been described for this gene

Mutations in this gene are associated with type II autosomal recessive Alport syndrome (hereditary glomerulonephropathy) and with familial benign hematuria (thin basement membrane disease)

Translocation between chromosomes 18 and 14 is the most common translocation in cancers and occurs in follicular lymphomas

The protein is made as a precursor that is autocatalytically cleaved| the N-terminal portion is soluble and contains the signalling activity while the C-terminal portion is involved in precursor processing

NDUFV2 Polyclonal Antibody, 50ul Monoclonal Antibody Preparation Several alternatively spliced transcript variantsThe NADH ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. NDUFV2 encodes the 24 kDa subunit of complex I, and is involved in electron transfer. Mutations in this gene are implicated in Parkinson's disease, bipolar disorder, schizophrenia, and have been found