NFAT1(Phospho Ser326) Rabbit Polyclonal Antibody, 100ul Antibody Development Mutations in PDHA1 are associated

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

These complexes consist of a catalytic subunit associating with a specific regulatory subunit to form the active kinase

GO annotations related to this gene include GTP binding and enzyme regulator activity

where most DUF1220 domains are located

NFAT1(Phospho Ser326) Rabbit Polyclonal Antibody, 100ul Antibody Development Mutations in PDHA1 are associatedThis gene is a member of the nuclear factor of activated T cells (NFAT) family. The product of this gene is a DNA binding protein with a REL homology region (RHR) and an NFAT homology region (NHR). This protein is present in the cytosol and only translocates to the nucleus upon T cell receptor (TCR) stimulation where it becomes a member of the nuclear factors of activated T cells transcription complex. This complex plays a central role in inducing