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Translocation associated membrane protein 2

KIAA0057, TRAM2, TRAM-like protein
TRAM2 is a component of the translocon, a gated macromolecular channel that controls the posttranslational processing of nascent secretory and membrane proteins at the endoplasmic reticulum (ER) membrane.[supplied by OMIM, Jul 2004] (from NCBI)
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Top mentioned proteins: PKHD1, ACID, TRAM, Lano, glutamate-cysteine ligase, catalytic subunit
Papers on KIAA0057
Aromatase inhibitor-associated bone fractures: a case-cohort GWAS and functional genomics.
Weinshilboum et al., Kingston, Canada. In Mol Endocrinol, 2014
After removal of signals in gene deserts and those composed entirely of imputed SNPs, we applied a functional validation "decision cascade" that resulted in validation of the CTSZ-SLMO2-ATP5E, TRAM2-TMEM14A, and MAP4K4 genes.
Three de novo losses and one insertion within a pericentric inversion of chromosome 6 in a patient with complete absence of expressive speech and reduced pain perception.
Haaf et al., Utrecht, Netherlands. In Eur J Med Genet, 2009
containing the genes PKHD1, IL17, MCM3, EFHC1, and TRAM2 genes, and an 11.9 Mb loss in region 6q14.3-q16.1, reported previously, were mapped on the rearranged chromosome 6.
Preimplantation genetic diagnosis for autosomal recessive polycystic kidney disease.
Steffann et al., Paris, France. In Reprod Biomed Online, 2008
Six linked markers within (D6S1714 and D6S243), or in close proximity to (D6S272, D6S436, KIAA0057, D6S1662) the PKHD1 gene were tested by multiplex nested-polymerase chain reaction (PCR), using a Qiagen multiplex PCR kit.
Identification of novel Runx2 targets in osteoblasts: cell type-specific BMP-dependent regulation of Tram2.
Frenkel et al., Los Angeles, United States. In J Cell Biochem, 2008
Identification of novel Runx2 targets in osteoblasts: cell type-specific BMP-dependent regulation of Tram2.
Mutation analyses of genes on 6p12-p11 in patients with juvenile myoclonic epilepsy.
Yamakawa et al., Wako, Japan. In Neurosci Lett, 2006
Recently, we reported the reduction of the EJM1 region to 3.5cM that contains 18 genes, the exclusion of three genes (LRRC1, GCLC, KIAA0057) by mutation analyses, and the identification of Myoclonin1/EFHC1 as the EJM1 gene.
TRAM2 protein interacts with endoplasmic reticulum Ca2+ pump Serca2b and is necessary for collagen type I synthesis.
Brenner et al., Tallahassee, United States. In Mol Cell Biol, 2004
TRAM2, as a part of the translocon, is required for the biosynthesis of type I collagen by coupling the activity of SERCA2b with the activity of the translocon
Identification and mutational analysis of candidate genes for juvenile myoclonic epilepsy on 6p11-p12: LRRC1, GCLC, KIAA0057 and CLIC5.
Yamakawa et al., Wako, Japan. In Epilepsy Res, 2002
We further performed mutational analyses of CLIC5, KIAA0057 and GCLC genes in or flank to the EJM1 region.
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