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proteins. Page last changed on 19 Aug 2016.
Glioblastoma amplified sequence
This gene encodes a member of the NipSnap family of proteins that may be involved in vesicular transport. The encoded protein is localized to mitochondria and plays a role in oxidative phosphorylation. A pseudogene of this gene is located on the long arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011] (from
Reilly et al., Philadelphia, United States. In Hum Mol Genet, Apr 2015
The top GWAS SNPs are not located within protein-coding genes, but have significant cis-expression quantitative trait loci (eQTL) associations with expression of a cluster of genes ∼400 kb upstream, several of which (SUMF2, CCT6A, GBAS) are regulated by LPS in vivo in blood cells.
van den Heuvel et al., Nijmegen, Netherlands. In J Inherit Metab Dis, 2010
In this study, four nuclear candidate genes--NIPSNAP1, GBAS, CHCHD1 and METT11D1--were screened for mutations in 22 patients with a combined enzymatic deficiency of primarily the OXPHOS complexes I, III and IV to determine whether a mutation in one of these genes could explain the mitochondrial disorder.
James et al., Rochester, United States. In Genomics, 1998
Here we report the identification of and coding sequence for a novel gene, GBAS, that is localized to this region and was found to be amplified in 2 of 12 tumors as well as in 2 of 3 cell lines with EGFR amplification.