Also known as DMC, SMC, dymeclin
gene umano
Gene data
DYM- Name
- dymeclin
- Type
- protein-coding
- Position
- 49,036,387–49,461,347 (−)
- Aliases
- DMC, SMC
- Ensembl
- ENSG00000141627
- RefSeq RNA
- NM_001353210.3, NM_001353211.3, NM_001353212.3, NM_001353213.3, NM_001353214.3
- RefSeq protein
- NP_001340139.1, NP_001340140.1, NP_001340141.1, NP_001340142.1, NP_001340143.1
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].
Gene Ontology
Biological process
Molecular function
Cellular component
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
- Instance of
- gene
Show 8 more facts
- HomoloGene ID
- 69237
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/54808
- genomic end
- 46987717
- genomic start
- 46570039
- chromosome
- human chromosome 18
- cytogenetic location
- 18q21.1
- expressed in
- gonad
Sources (4)
via Wikidata · CC0