NDUFV2 Polyclonal Antibody, 50ul Monoclonal Antibody Preparation Mutations in this gene are

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

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

This gene plays a role in craniofacial and cognitive development and mutations have been associated with Williams-Beuren syndrome

GARP complex subunit) encodes for a protein that in yeast forms part of a trimeric vacuolar-protein-sorting complex that is required for retrograde transport of proteins from prevacuoles to the late Golgi compartment

NDUFV2 Polyclonal Antibody, 50ul Monoclonal Antibody Preparation Mutations in this gene areThe 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