DYM: Difference between revisions

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)
End	49,461,347 bp
Gene location (Mouse)
Chr.	Chromosome 18 (mouse)
End	75,420,035 bp
RNA expression pattern
	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
	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
	54808
	69190
	ENSG00000141627
	ENSMUSG00000035765
	Q7RTS9
	Q8CHY3
NM_017653; NM_001353210; NM_001353211; NM_001353212; NM_001353213;
	NM_001353214; NM_001353215; NM_001353216
	NM_027727
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
	Wikidata
View/Edit Human	View/Edit Mouse

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Revision as of 18:38, 26 August 2021

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

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

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. 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.{{cite journal}}: CS1 maint: unflagged free DOI (link)

This article on a gene on human chromosome 18 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000141627 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[entrez-5] "Entrez Gene: DYM dymeclin".

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 *{{cite journal  | vauthors=Ehtesham N, Cantor RM, King LM |title=Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12 |journal=Am. J. Hum. Genet. |volume=71 |issue= 4 |pages= 947–51 |year= 2002 |pmid= 12161821 |doi=10.1086/342669  | pmc=378548  |display-authors=etal}}
 *{{cite journal  | vauthors=Thauvin-Robinet C, El Ghouzzi V, Chemaitilly W |title=Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1 |journal=J. Med. Genet. |volume=39 |issue= 10 |pages= 714–7 |year= 2002 |pmid= 12362026 |doi=10.1136/jmg.39.10.714  | pmc=1734996  |display-authors=etal}}
-*{{cite journal  | vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899  | pmc=139241 |display-authors=etal}}
+*{{cite journal  | vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899  | pmc=139241 |display-authors=etal|doi-access=free }}
 *{{cite journal  | vauthors=Cohn DH, Ehtesham N, Krakow D |title=Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene |journal=Am. J. Hum. Genet. |volume=72 |issue= 2 |pages= 419–28 |year= 2003 |pmid= 12491225 |doi=10.1086/346176  | pmc=420018  |display-authors=etal}}
 *{{cite journal  | vauthors=El Ghouzzi V, Dagoneau N, Kinning E |title=Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome |journal=Hum. Mol. Genet. |volume=12 |issue= 3 |pages= 357–64 |year= 2003 |pmid= 12554689 |doi=10.1093/hmg/ddg029  |display-authors=etal|doi-access=free }}

Revision as of 18:38, 26 August 2021

References

Further reading