BL1S3 Rabbit Polyclonal Antibody, 100ul Immunology subfamily C

subfamily C

Cyclin dependent kinase inhibitor 1A can interact with proliferating cell nuclear antigen

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

hypohidrotic ectodermal dysplasia

ACSS1 encodes a mitochondrial acetyl-CoA synthetase enzyme (acyl-CoA synthetase short-chain family member 1)

BL1S3 Rabbit Polyclonal Antibody, 100ul Immunology subfamily CThis 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.