ZN512 Rabbit Polyclonal Antibody, 50ul Subcellular Fractions Mutations in this gene have

Mutations in this gene have been found in individuals with nephrotic syndrome

which is characteristic of proteins that function in the ubiquitination pathway

The gene product is a short chain collagen and a major component of the basement membrane of the corneal endothelium

One type of mutation responsible for EPM1 is the expansion in the promoter region of this gene of a CCCCGCCCCGCG repeat from 2-3 copies to 30-78 copies

ZN512 Rabbit Polyclonal Antibody, 50ul Subcellular Fractions Mutations in this gene haveThis gene encodes a protein containing four putative zinc finger motifs. Zinc finger motifs may bind to proteins or nucleic acids. Zinc finger containing proteins are involved in a variety of processes including regulation of transcription. Alternative splicing results in multiple transcript variants for this gene.