Literature DB >> 7806238

A new human gene (DXS1357E) with ubiquitous expression, located in Xq28 adjacent to the adrenoleukodystrophy gene.

J Mosser1, C O Sarde, S Vicaire, J R Yates, J L Mandel.   

Abstract

We have isolated a new human gene (DXS1357E; laboratory name: CDM) localized in Xq28. This gene is transcribed from the same CpG island as the adrenoleukodystrophy gene (ALD) and oriented in the opposite direction. It encodes a 1.5-kb transcript that exhibits ubiquitous expression and contains a single open reading frame. The 246 deduced amino acid sequence suggests the presence of membrane-associated segments and a weak similarity with the rod-like tail portion of heavy chain myosins from different species. The DXS1357E gene may be a candidate for one of the many diseases mapping to this region. A preliminary analysis did not show rearrangements of the gene in 19 independent patients with Emery-Dreifuss muscular dystrophy.

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Year:  1994        PMID: 7806238     DOI: 10.1006/geno.1994.1413

Source DB:  PubMed          Journal:  Genomics        ISSN: 0888-7543            Impact factor:   5.736


  11 in total

Review 1.  X-linked adrenoleukodystrophy: genes, mutations, and phenotypes.

Authors:  K D Smith; S Kemp; L T Braiterman; J F Lu; H M Wei; M Geraghty; G Stetten; J S Bergin; J Pevsner; P A Watkins
Journal:  Neurochem Res       Date:  1999-04       Impact factor: 3.996

2.  The procaspase-8 isoform, procaspase-8L, recruited to the BAP31 complex at the endoplasmic reticulum.

Authors:  David G Breckenridge; Mai Nguyen; Stephan Kuppig; Michael Reth; Gordon C Shore
Journal:  Proc Natl Acad Sci U S A       Date:  2002-03-26       Impact factor: 11.205

3.  Caspase-resistant BAP31 inhibits fas-mediated apoptotic membrane fragmentation and release of cytochrome c from mitochondria.

Authors:  M Nguyen; D G Breckenridge; A Ducret; G C Shore
Journal:  Mol Cell Biol       Date:  2000-09       Impact factor: 4.272

4.  Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders.

Authors:  Deyanira Corzo; William Gibson; Kisha Johnson; Grant Mitchell; Guy LePage; Gerald F Cox; Robin Casey; Carolyn Zeiss; Heidi Tyson; Garry R Cutting; Gerald V Raymond; Kirby D Smith; Paul A Watkins; Ann B Moser; Hugo W Moser; Steven J Steinberg
Journal:  Am J Hum Genet       Date:  2002-04-29       Impact factor: 11.025

5.  The locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28.

Authors:  A Auricchio; V Brancolini; G Casari; P J Milla; V V Smith; M Devoto; A Ballabio
Journal:  Am J Hum Genet       Date:  1996-04       Impact factor: 11.025

6.  p28 Bap31, a Bcl-2/Bcl-XL- and procaspase-8-associated protein in the endoplasmic reticulum.

Authors:  F W Ng; M Nguyen; T Kwan; P E Branton; D W Nicholson; J A Cromlish; G C Shore
Journal:  J Cell Biol       Date:  1997-10-20       Impact factor: 10.539

7.  BAP31 is involved in T cell activation through TCR signal pathways.

Authors:  Kunwei Niu; Jialin Xu; Yuhua Cao; Yue Hou; Mu Shan; Yanqing Wang; Yang Xu; Mingyi Sun; Bing Wang
Journal:  Sci Rep       Date:  2017-03-23       Impact factor: 4.379

8.  Structural and biophysical characterization of the cytoplasmic domains of human BAP29 and BAP31.

Authors:  Esben M Quistgaard; Christian Löw; Per Moberg; Fatma Guettou; Karthik Maddi; Pär Nordlund
Journal:  PLoS One       Date:  2013-08-13       Impact factor: 3.240

9.  MiR-362 suppresses cervical cancer progression via directly targeting BAP31 and activating TGFβ/Smad pathway.

Authors:  Shuya Yang; Yuanjie Sun; Dongbo Jiang; Jing Wang; Erle Dang; Zichao Li; Jiayi Zhou; Yuchen Lu; Jingqi Shi; Liang Tao; Jun Wang; Boquan Jin; Lianhe Zheng; Kun Yang
Journal:  Cancer Med       Date:  2020-11-19       Impact factor: 4.452

10.  Structure and Function of the ABCD1 Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy.

Authors:  Eric J Mallack; Kerry Gao; Marc Engelen; Stephan Kemp
Journal:  Cells       Date:  2022-01-14       Impact factor: 6.600

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