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- Table of Contents
Facts about Eukaryotic translation initiation factor 4H.
.
Human | |
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Gene Name: | EIF4H |
Uniprot: | Q15056 |
Entrez: | 7458 |
Belongs to: |
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No superfamily |
eukaryotic translation initiation factor 4H; KIAA0038eIF-4H; WBSCR1; Williams-Beuren syndrome chromosome region 1; WSCR1Williams-Beuren syndrome chromosomal region 1 protein
Mass (kDA):
27.385 kDA
Human | |
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Location: | 7q11.23 |
Sequence: | 7; NC_000007.14 (74174356..74197096) |
The short isoform is the predominant isoform and is expressed alone in liver and skeletal muscle. Both isoforms are expressed in fibroblast, spleen, testis and bone marrow. Levels are high in lung and pancreas and low in heart, frontal cortex and kidney.
Cytoplasm, perinuclear region.
PMID: 8812460 by Osborne L.R., et al. Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients.
PMID: 11003705 by Martindale D.W., et al. Comparative genomic sequence analysis of the Williams syndrome region (LIMK1-RFC2) of human chromosome 7q11.23.