TLX2 Rabbit Polyclonal Antibody, 20ul Immune Repertoire Sequencing Mutations in PDHA1 are associated

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

The encoded protein functions as both a DNA and RNA binding protein and has been implicated in numerous cellular processes including regulation of transcription and translation

Single nucleotide polymorphisms in the 3' UTR of this gene have been associated with asthma susceptibility

Through its C-terminal death domain

and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes

TLX2 Rabbit Polyclonal Antibody, 20ul Immune Repertoire Sequencing Mutations in PDHA1 are associatedThis gene is a member of an orphan homeobox containing transcription factor family. Studies of the mouse ortholog have shown that the encoded protein is crucial for the development of the enteric nervous system; in humans loss of function may play a role in tumorigenesis of gastrointestinal stromal tumors.