GAK3 Rabbit Polyclonal Antibody, 50ul Inoculating Loops/Needles Mutations in this gene cause

Mutations in this gene cause aminoacylase-1 deficiency| a metabolic disorder characterized by central nervous system defects and increased urinary excretion of N-acetylated amino acids

Alternative splicing of this gene results in multiple transcript variants encoding different isoforms and non-coding transcripts

Mutations in IGLL1 can result in B cell deficiency and agammaglobulinemia

This subunit interacts with dynein intermediate chain by its domains directly binding to dynein and binds to microtubules via a highly conserved glycine-rich cytoskeleton-associated protein (CAP-Gly) domain in its N-terminus

which is known as a precursor of the cornified cell envelope

GAK3 Rabbit Polyclonal Antibody, 50ul Inoculating Loops/Needles Mutations in this gene cause