NU133 Polyclonal Antibody, 20ul Electrophoresis & Labeling Mutations in PDHA1 are associated

Mutations in PDHA1 are associated with pyruvate dehydrogenase E1-alpha deficiency and X-linked Leigh syndrome

an autosomal dominant pre-malignant disease that usually progresses to malignancy

amiloride-sensitive

Alternative splicing has been observed for this gene and three transcript variants| encoding distinct isoforms| have been identified

Deficiencies in this gene can result in male pseudohermaphroditism

NU133 Polyclonal Antibody, 20ul Electrophoresis & Labeling Mutations in PDHA1 are associatedThe nuclear envelope creates distinct nuclear and cytoplasmic compartments in eukaryotic cells. It consists of two concentric membranes perforated by nuclear pores, large protein complexes that form aqueous channels to regulate the flow of macromolecules between the nucleus and the cytoplasm. These complexes are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. The nucleoporin protein encoded by