RBSK Rabbit Polyclonal Antibody, 100ul Pipette Holder Mutations in this gene have

Mutations in this gene have been found in patients with Saethre-Chotzen syndrome

This gene is a candidate gene for Hirschsprung disease

resulting in the reconfiguration of cadherin-actin filament connections

CGRRF1 (Cell Growth Regulator With Ring Finger Domain 1) is a Protein Coding gene

Mammalian mitochondrial ribosomal protein L 40 (39S ribosomal protein L40 mitochondrial) is encoded by nuclear gene MRPL40 and help in protein synthesis within the mitochondrion

RBSK Rabbit Polyclonal Antibody, 100ul Pipette Holder Mutations in this gene haveThis gene encodes a member of the carbohydrate kinase PfkB family. The encoded protein phosphorylates ribose to form ribose 5 phosphate in the presence of ATP and magnesium as a first step in ribose metabolism. Alternative splicing results in multiple transcript variants.