BL1S3 Rabbit Polyclonal Antibody, 100ul Immunology RBM26 (RNA Binding Motif Protein

RBM26 (RNA Binding Motif Protein 26) is a Protein Coding gene

an allelic variant of the gene that results in undetectable levels of the protein has been associated with lethal autosomal recessive lissencephaly-7

6-biphosphate using independent catalytic domains

hypohidrotic ectodermal dysplasia

The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha V subunit

BL1S3 Rabbit Polyclonal Antibody, 100ul Immunology RBM26 (RNA Binding Motif ProteinThis gene encodes a protein that is a component of the BLOC1 multi subunit protein complex. This complex is necessary for the biogenesis of specialized organelles of the endosomal lysosomal system, including platelet dense granules and melanosomes. Mutations in this gene cause Hermansky Pudlak syndrome 8, a disease characterized by lysosomal storage defects, bleeding due to platelet storage pool deficiency, and oculocutaneous albinism.