Property Summary

NCBI Gene PubMed Count 25
PubMed Score 31.55
PubTator Score 79.32

Knowledge Summary

Patent

No data available

Expression

Pathway (1)

Gene RIF (11)

PMID Text
25652408 Dymeclin is crucial for proper myelination and anterograde neuronal trafficking, two processes that are highly active during postnatal brain maturation.
24300288 The clinical diagnosis was confirmed with molecular analysis of DYM with a known mutation at c.580C>T (p.R194X).
21280149 Data reveal Dymeclin driven processes central to bone development pathways, including Golgi organization, Golgi-coupled protein secretion, and collagen deposition in the extracellular matrix.
20865280 A novel homozygous splice-site mutation (IVS15+3G>T)of dymeclin gene in the 18q12-12.1 chromosomal region was detected in Dyggve-Melchior-Clausen syndrome.
20555340 dymeclin gene has a role in Golgi function and vesicular transport in the presynapse in schizophrenia in the Japanese population
20555340 Observational study of gene-disease association. (HuGE Navigator)
20546612 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
18996921 DYM mutations associated with Dyggve-Melchior-Clausen dysplasia result in mis-localization of Dymeclin.
12554689 Mutations cause Dyggve-Melchior-Clausen syndrome. Normal function may be in process of intracellular digestion of proteins.
12491225 Gene mutations in a novel, evolutionarily conserved gene are identified in both rare autosomal recessive osteochondrodysplasias (DMC and SMC).

AA Sequence

MGSNSSRIGDLPKNEYLKKLSGTESISENDPFWNQLLSFSFPAPTSSSELKLLEEATISVCRSLVENNPR      1 - 70
TGNLGALIKVFLSRTKELKLSAECQNHIFIWQTHNALFIICCLLKVFICQMSEEELQLHFTYEEKSPGNY     71 - 140
SSDSEDLLEELLCCLMQLITDIPLLDITYEISVEAISTMVVFLSCQLFHKEVLRQSISHKYLMRGPCLPY    141 - 210
TSKLVKTLLYNFIRQEKPPPPGAHVFPQQSDGGGLLYGLASGVATGLWTVFTLGGVGSKAAASPELSSPL    211 - 280
ANQSLLLLLVLANLTDASDAPNPYRQAIMSFKNTQDSSPFPSSIPHAFQINFNSLYTALCEQQTSDQATL    281 - 350
LLYTLLHQNSNIRTYMLARTDMENLVLPILEILYHVEERNSHHVYMALIILLILTEDDGFNRSIHEVILK    351 - 420
NITWYSERVLTEISLGSLLILVVIRTIQYNMTRTRDKYLHTNCLAALANMSAQFRSLHQYAAQRIISLFS    421 - 490
LLSKKHNKVLEQATQSLRGSLSSNDVPLPDYAQDLNVIEEVIRMMLEIINSCLTNSLHHNPNLVYALLYK    491 - 560
RDLFEQFRTHPSFQDIMQNIDLVISFFSSRLLQAGAELSVERVLEIIKQGVVALPKDRLKKFPELKFKYV    561 - 630
EEEQPEEFFIPYVWSLVYNSAVGLYWNPQDIQLFTMDSD                                   631 - 669
//

Text Mined References (28)

PMID Year Title
25652408 2015 Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans.
25429064 2015 Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
25255805 2014 Global profiling of co- and post-translationally N-myristoylated proteomes in human cells.
24300288 2014 A novel frameshift mutation and infrequent clinical findings in two cases with Dyggve-Melchior-Clausen syndrome.
23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
23064961 2013 GWAS of dental caries patterns in the permanent dentition.
22021425 2012 Genome-wide association study of body height in African Americans: the Women's Health Initiative SNP Health Association Resource (SHARe).
21998595 2011 Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.
21280149 2011 Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone development.
20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.
20865280 2011 Dyggve-Melchior-Clausen syndrome: novel splice mutation with atlanto-axial subluxation.
20555340 2010 An association study between the dymeclin gene and schizophrenia in the Japanese population.
20546612 2010 The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19005420 2009 Portuguese case of Smith-McCort syndrome caused by a new mutation in the Dymeclin (FLJ20071) gene.
18996921 2009 The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus.
18391952 2008 Genome-wide association analysis identifies 20 loci that influence adult height.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17456239 2007 Discovery of tissue-specific exons using comprehensive human exon microarrays.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12554689 2003 Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome.
12491225 2003 Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12362026 2002 Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1.
12161821 2002 Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.