DYM

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)
End	49,461,347 bp
Gene location (Mouse)
Chr.	Chromosome 18 (mouse)
End	75,420,035 bp
RNA expression pattern
	Top expressed in
	bone marrow cells; ; 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
	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
	54808
	69190
	ENSG00000141627
	ENSMUSG00000035765
	Q7RTS9
	Q8CHY3
NM_017653; NM_001353210; NM_001353211; NM_001353212; NM_001353213;
	NM_001353214; NM_001353215; NM_001353216
	NM_027727
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
	Wikidata
View/Edit Human	View/Edit Mouse

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.