Ask about this productRelated genes to: EFCAB3 Blocking Peptide
- Gene:
- EFCAB3 NIH gene
- Name:
- EF-hand calcium binding domain 3
- Previous symbol:
- -
- Synonyms:
- FLJ25818
- Chromosome:
- 17q23.2
- Locus Type:
- gene with protein product
- Date approved:
- 2006-02-13
- Date modifiied:
- 2016-10-05
Related products to: EFCAB3 Blocking Peptide
Related articles to: EFCAB3 Blocking Peptide
- The objective of this study was to better understand the pathophysiology and underlying genetic mechanisms behind two abdominal aortic aneurysm (AAA) subtypes using computed tomographic imaging in combination with whole genome sequencing. - Source: PubMed
Publication date: 2020/10/22
Miner Grace HRenton Alan ETaubenfeld EllaTadros Rami OMarcora EdoardoLookstein Robert AFaries Peter LMarin Michael L - We report full-length draft de novo genome assemblies for 16 widely used inbred mouse strains and find extensive strain-specific haplotype variation. We identify and characterize 2,567 regions on the current mouse reference genome exhibiting the greatest sequence diversity. These regions are enriched for genes involved in pathogen defence and immunity and exhibit enrichment of transposable elements and signatures of recent retrotransposition events. Combinations of alleles and genes unique to an individual strain are commonly observed at these loci, reflecting distinct strain phenotypes. We used these genomes to improve the mouse reference genome, resulting in the completion of 10 new gene structures. Also, 62 new coding loci were added to the reference genome annotation. These genomes identified a large, previously unannotated, gene (Efcab3-like) encoding 5,874 amino acids. Mutant Efcab3-like mice display anomalies in multiple brain regions, suggesting a possible role for this gene in the regulation of brain development. - Source: PubMed
Publication date: 2018/10/01
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