Property Summary

NCBI Gene PubMed Count 25
Grant Count 94
R01 Count 8
Funding $34,694,338.29
PubMed Score 31.55
PubTator Score 79.32

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q7RTS9 A8K5I8 B2RCF9 B4DKI7 Q3ZTS8 Q6P2P5 Q8N2M0 Q9BVE9 Q9NPU7
Symbols DMC
SMC

Gene

DYM

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.
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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.
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