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FIGURE: 1 / 2
Sequence of this protein is as follows: MSSAAADHWA WLLVLSFVFG CNVLRILLPS FSSFMSRVLQ KDAEQESQMR AEIQDMKQEL STVNMMDEFA RYARLERKIN KMTDKLKTHV KARTAQLAKI KWVISVAFYV LQAALMISLI WKYYSVPVAV VPSKWITPLD RLVAFPTRVA GGVGITCWIL VCNKVVAIVL HPFS
This gene encodes a basic nuclear protein of unknown function. The gene is widely expressed in adult and fetal tissues. Since the region proposed to contain the gene(s) for congenital heart disease (CHD) in Down syndrome (DS) patients has been restricted to 21q22.2-22.3, this gene, which maps to 21q22.3, has a potential role in the pathogenesis of Down syndrome congenital heart disease. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
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Protein Aliases: Congenital heart disease 5 protein; Guided entry of tail-anchored proteins factor 1; Tail-anchored protein insertion receptor WRB; Tryptophan-rich basic protein; tryptophan-rich protein
Gene Aliases: CHD5; GET1; WRB
UniProt ID: (Human) O00258, (Rat) Q6P6S5
Entrez Gene ID: (Human) 7485, (Rat) 288233
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