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| summary_text = 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.<ref name="entrez"/>
| summary_text = This gene encodes a protein which is necessary for normal skeletal development and [[Brain|brain function]]. Mutations in this gene are associated with two types of recessive [[Osteochondrodysplasia|osteochondrodysplasia]], Dyggve-Melchior-Clausen (DMC) [[dysplasia]] and Smith-McCort (SMC) dysplasia, which involve both skeletal defects and [[Intellectual_disability#Terminology|mental retardation]].<ref name="entrez"/>
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Revision as of 04:29, 17 September 2016

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

NM_027727

RefSeq (protein)

NP_082003

Location (UCSC)Chr 18: 49.04 – 49.46 MbChr 18: 75.15 – 75.42 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]

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References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000141627Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000035765Ensembl, 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. ^ "Entrez Gene: DYM dymeclin".

Further reading

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