DYM

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Dymeclin
Identifiers
Symbol(s) DYM; DMC; FLJ20071; FLJ90130; SMC
External IDs OMIM: 607461 MGI: 1918480 HomoloGene: 69237
Orthologs
Human Mouse
Entrez 54808 69190
Ensembl ENSG00000141627 ENSMUSG00000035765
Uniprot Q7RTS9 Q3U3F3
Refseq NM_017653 (mRNA)
NP_060123 (protein)		 NM_027727 (mRNA)
NP_082003 (protein)
Location Chr 18: 44.82 - 45.24 Mb Chr 18: 75.14 - 75.41 Mb
Pubmed search [1] [2]

Dymeclin, also known as DYM, is a human 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]

[edit] References

  1. ^ a b Entrez Gene: DYM dymeclin.

[edit] Further reading

  • Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene 138 (1-2): 171–4. PMID 8125298. 
  • Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library.". Gene 200 (1-2): 149–56. PMID 9373149. 
  • Ehtesham N, Cantor RM, King LM, et al. (2002). "Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12.". Am. J. Hum. Genet. 71 (4): 947–51. PMID 12161821. 
  • Thauvin-Robinet C, El Ghouzzi V, Chemaitilly W, et al. (2002). "Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1.". J. Med. Genet. 39 (10): 714–7. PMID 12362026. 
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932. 
  • Cohn DH, Ehtesham N, Krakow D, et al. (2003). "Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene.". Am. J. Hum. Genet. 72 (2): 419–28. PMID 12491225. 
  • El Ghouzzi V, Dagoneau N, Kinning E, et al. (2003). "Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome.". Hum. Mol. Genet. 12 (3): 357–64. PMID 12554689. 
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039. 
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334. 
  • Clark TA, Schweitzer AC, Chen TX, et al. (2007). "Discovery of tissue-specific exons using comprehensive human exon microarrays.". Genome Biol. 8 (4): R64. doi:10.1186/gb-2007-8-4-r64. PMID 17456239. 
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