DYM

"Dym" redirects here. For other uses, see Dym (disambiguation).

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) [1] Band 18q21.1 Start 49,041,474 bp [1] End 49,461,347 bp [1]
Gene location (Mouse) Chr. Chromosome 18 (mouse) [2] Band 18|18 E3 Start 75,151,852 bp [2] End 75,420,035 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 54808 69190 Ensembl ENSG00000141627 ENSMUSG00000035765 UniProt Q7RTS9 Q8CHY3 RefSeq (mRNA) NM_017653 NM_001353210 NM_001353211 NM_001353212 NM_001353213 NM_001353214 NM_001353215 NM_001353216 NM_027727 RefSeq (protein) 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 Location (UCSC) Chr 18: 49.04 – 49.46 Mb Chr 18: 75.15 – 75.42 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/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 and has been first described and named in 2003. ^[6] 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. ^[5]

References

1. GRCh38: Ensembl release 89: ENSG00000141627 – Ensembl, May 2017
2. 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. "Entrez Gene: DYM dymeclin".
6. El Ghouzzi, V. (2003-02-01). "Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome". Human Molecular Genetics. 12 (3). Oxford University Press (OUP): 357–364. doi:10.1093/hmg/ddg029. ISSN   1460-2083. PMID   12554689.

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. doi:10.1016/0378-1119(94)90802-8. 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. doi:10.1016/S0378-1119(97)00411-3. 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. doi:10.1086/342669. PMC   378548 . 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. doi:10.1136/jmg.39.10.714. PMC   1734996 . 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. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . 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. doi:10.1086/346176. PMC   420018 . 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. doi: 10.1093/hmg/ddg029 . 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. PMC   528928 . 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 . PMC   1896007 . PMID   17456239.