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

which is characteristic of proteins that function in the ubiquitination pathway

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

The protein also plays a role in megakaryocytic cell maturation

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.