ZN512 Rabbit Polyclonal Antibody, 50ul Subcellular Fractions One type of mutation responsible

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

It catalyzes the pyridoxal-5-prime-phosphate-dependent condensation of L-serine and palmitoyl-CoA to 3-oxosphinganine

The protein encoded by this gene is required for the reduction of fatty acids to fatty alcohols| a process that is required for the synthesis of monoesters and ether lipids

which is characteristic of proteins that function in the ubiquitination pathway

ZN512 Rabbit Polyclonal Antibody, 50ul Subcellular Fractions One type of mutation responsibleThis 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.