DYM

Dymeclin is a protein that in humans is encoded by the DYM gene.^[5]

AliasesDYM, DMC, SMC, dymeclin

External IDsOMIM: 607461; MGI: 1918480; HomoloGene: 69237; GeneCards: DYM; OMA:DYM - orthologs

Chr.Chromosome 18 (human)^[1]

End49,461,347 bp^[1]

Quick facts Identifiers, Aliases ...

DYM
Identifiers
Aliases	DYM, DMC, SMC, dymeclin
External IDs	OMIM: 607461; MGI: 1918480; HomoloGene: 69237; GeneCards: DYM; OMA:DYM - orthologs
Gene location (Human) Chr. Chromosome 18 (human)[1] Band 18q21.1 Start 49,041,474 bp[1] End 49,461,347 bp[1]
Gene location (Mouse) Chr. Chromosome 18 (mouse)[2] Band 18|18 E3 Start 75,151,852 bp[2] End 75,420,035 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in bone marrow cell ganglionic eminence body of pancreas muscle of thigh tibialis anterior muscle right testis gastrocnemius muscle left testis Achilles tendon gonad Top expressed in spermatocyte spermatid muscle of thigh lumbar spinal ganglion gastrocnemius muscle ankle quadriceps femoris muscle tibialis anterior muscle triceps brachii muscle medial head of gastrocnemius muscle More reference expression data BioGPS n/a
Gene ontology Molecular function enzyme binding protein binding Cellular component membrane cytoplasm Golgi apparatus Biological process bone development Golgi organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 54808 69190 Ensembl ENSG00000141627 ENSMUSG00000035765 UniProt Q7RTS9 Q8CHY3 RefSeq (mRNA) NM_017653 NM_001353210 NM_001353211 NM_001353212 NM_001353213 NM_001353214 NM_001353215 NM_001353216 NM_027727 RefSeq (protein) NP_060123 NP_001340139 NP_001340140 NP_001340141 NP_001340142 NP_001340143 NP_001340144 NP_001340145 NP_001361357 NP_001361358 NP_001361359 NP_001361360 NP_001361361 NP_001361362 NP_001361363 NP_001361364 NP_001361365 NP_001361366 NP_001361367 NP_001361368 NP_001361369 NP_001361370 NP_001361371 NP_001361372 NP_001361373 NP_082003 Location (UCSC) Chr 18: 49.04 – 49.46 Mb Chr 18: 75.15 – 75.42 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Close

This gene encodes a protein which is necessary for normal skeletal development and brain function and has been first described and named in 2003.^[6] 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.^[5]