ISPD Rabbit Polyclonal Antibody, 20ul Fluorescent Staining Mutations in this gene have

Mutations in this gene have been associated with pontocerebellar hypoplasia type 2

All family members contain the conserved acyl-Coenzyme A binding domain| which binds acyl-CoA thiol esters

NBEAL2 (neurobeachin-like protein 2)

cell adhesion and proliferation

stability and cross-linking by catalyzing post-translational 3-hydroxylation of proline residues

ISPD Rabbit Polyclonal Antibody, 20ul Fluorescent Staining Mutations in this gene haveThis gene encodes a 2 C methyl D erythritol 4 phosphate cytidylyltransferase like protein. Mutations in this gene are the cause of Walker Warburg syndrome. Alternate splicing results in multiple transcript variants.