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

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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

In contrast to HMWK

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.