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

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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.

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Description

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

The product of this gene catalyzes the breakdown of malonyl-CoA to acetyl-CoA and carbon dioxide

Altered syndecan-1 expression has been detected in several different tumor types

membrane-associated glycoproteins

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.

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