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Gene: DYM (dymeclin) Homo sapiens
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Symbol: DYM
Name: dymeclin
Description: This gene encodes a protein which regulates Golgi-associated secretory pathways that are essential to endochondral bone formation during early development. This gene is also believed to play a role in early brain development. This gene is widely expressed in embryos and is particularly abundant in chodrocytes and brain tissues. It encodes a peripheral membrane protein which shuttles between the cytosol and Golgi complex. Mutations in this gene are associated with two types of recessive osteochondrodysplasia: Dyggve-Melchior-Clausen (DMC) dysplasia and Smith-McCort (SMC) dysplasia. [provided by RefSeq, Jun 2017]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DMC; dyggve-Melchior-Clausen syndrome protein; FLJ20071; FLJ90130; SMC
Orthologs:
Mus musculus (house mouse) : Dym (dymeclin)  MGI  Alliance
Rattus norvegicus (Norway rat) : Dym (dymeclin)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Dym (dymeclin)
Pan paniscus (bonobo/pygmy chimpanzee) : DYM (dymeclin)
Canis lupus familiaris (dog) : DYM (dymeclin)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Dym (dymeclin)
Sus scrofa (pig) : DYM (dymeclin)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381849,041,474 - 49,460,733 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371846,567,846 - 46,987,172 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361844,824,170 - 45,241,077 (-)NCBINCBI36hg18NCBI36
Build 341844,824,169 - 45,241,077NCBI
Celera1843,423,709 - 43,842,456 (-)NCBI
Cytogenetic Map18q21.1NCBI
HuRef1843,422,918 - 43,840,755 (-)NCBIHuRef
CHM1_11846,565,142 - 46,982,392 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on DYM
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1350887
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-06-18
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.