Also known as DMC, SMC, dymeclin
Dymeclin is a protein that in humans is encoded by the DYM gene.
Gene data
DYM- Name
- dymeclin
- Type
- protein-coding
- Aliases
- DMC, SMC
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].
via MyGene.info
Gene · Ensembl
dymeclin
- Symbol
- DYM
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 18:49,036,387-49,461,347
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 69237
- exact match
- identifiers.org/ncbigene/54808
- genomic end
- 46987717
- genomic start
- 46570039
- cytogenetic location
- 18q21.1
Sources (4)
via Wikidata · CC0
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Article
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- References
- Further reading
Dymeclin is a protein that in humans is encoded by the DYM gene.
This gene encodes a protein which is necessary for normal skeletal development and brain function and has been first described and named in 2003. Mutations in this gene are associated with two types of recessive osteochondrodysplasias, Dyggve-Melchior-Clausen (DMC) syndrome, which involves both skeletal defects and postnatal microcephaly with intellectual deficiency, and Smith-McCort (SMC) dysplasia, which involves skeletal defects only.