DYM

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DYM
Identifiers
AliasesDYM, DMC, SMC, dymeclin
External IDsOMIM: 607461 MGI: 1918480 HomoloGene: 69237 GeneCards: DYM
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_027727

RefSeq (protein)

NP_082003

Location (UCSC)Chr 18: 49.04 – 49.46 MbChr 18: 75.02 – 75.29 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

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.[5]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000141627 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000035765 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b "Entrez Gene: DYM dymeclin".

Further reading[edit]