DYM

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Dymeclin
Identifiers
Symbols DYM ; DMC; SMC
External IDs OMIM607461 MGI1918480 HomoloGene69237 GeneCards: DYM Gene
Orthologs
Species Human Mouse
Entrez 54808 69190
Ensembl ENSG00000141627 ENSMUSG00000035765
UniProt Q7RTS9 Q8CHY3
RefSeq (mRNA) NM_017653 NM_027727
RefSeq (protein) NP_060123 NP_082003
Location (UCSC) Chr 18:
46.57 – 46.99 Mb
Chr 18:
75.02 – 75.29 Mb
PubMed search [1] [2]

Dymeclin is a protein that in humans is encoded by the DYM gene.[1]

This gene encodes a protein which is necessary for normal skeletal development and brain function. Mutations in this gene are associated with two types of recessive osteochondrodysplasia, Dyggve-Melchior-Clausen (DMC) dysplasia and Smith-McCort (SMC) dysplasia, which involve both skeletal defects and mental retardation.[1]

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