Human Rna Polymerase Ii Subunit A C-terminal Domain Phosphatase, CTDP1 ELISA Kit, 96T Recombinant Protein Expression Mutations in this gene have

Mutations in this gene have been associated with individuals affected by severe intellectual disability| early-onset epilepsy| microcephaly| congenital cataracts| growth retardation| and spasticity (PMID: 25439727)

and in neural progenitor self-renewal

ranging from cell growth and organization of the actin cytoskeleton to endo- and exocytosis

Regulates autophagic vacuoles (AVs) maturation by modulating the trafficking between endocytic and autophagolysosomal/lysosomal compartments

Mutations in this gene have been associated with limb-girdle muscular dystrophy

Human Rna Polymerase Ii Subunit A C-terminal Domain Phosphatase, CTDP1 ELISA Kit, 96T Recombinant Protein Expression Mutations in this gene have