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REPS1 Polyclonal Antibody, 50ul General Lab Use a cause of Zellweger syndrome

SKU: 87750546907

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REPS1 Polyclonal Antibody, 50ul General Lab Use a cause of Zellweger syndromeREPS1 (RALBP1 associated Eps domain containing 1) encodes a signaling adaptor protein with two EH domains that interacts with proteins that participate in signaling, endocytosis and cytoskeletal changes. The encoded protein has been found in association with intersectin 1 and Src homology 3 domain growth factor receptor bound 2 like (endophilin) interacting protein 1 when intersectin 1 was isolated from clathrin coated pits. The encoded protein has

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Description

a cause of Zellweger syndrome (ZWS) as well as may be a cause of infantile Refsum disease (IRD)

A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1)| and binds to alpha- and beta-dystrobrevins| which are components of the dystrophin-associated protein complex (DPC)

SLC25A41 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al

This gene is regulated by the transcription factors ZNF444/EZF-2 and SP1

both domains are DNA-binding motifs

REPS1 Polyclonal Antibody, 50ul General Lab Use a cause of Zellweger syndromeREPS1 (RALBP1 associated Eps domain containing 1) encodes a signaling adaptor protein with two EH domains that interacts with proteins that participate in signaling, endocytosis and cytoskeletal changes. The encoded protein has been found in association with intersectin 1 and Src homology 3 domain growth factor receptor bound 2 like (endophilin) interacting protein 1 when intersectin 1 was isolated from clathrin coated pits. The encoded protein has

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