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Desmin

DES
Pengidentifikasi
AliasDES, CSM1, CSM2, LGMD2R, desmin, LGMD1D, CMD1F, CDCD3, LGMD1E
ID EksternalOMIM: 125660; MGI: 94885; HomoloGene: 56469; GeneCards: DES; OMA:DES - orthologs
Ortologi
SpesiesManusiaTikus
Entrez

1674

13346

Ensembl

ENSG00000175084

ENSMUSG00000026208

UniProt

P17661

P31001

RefSeq (mRNA)

NM_001927

NM_010043

RefSeq (protein)

NP_034173

Location (UCSC)n/an/a
PubMed search[1][2]
Wikidata
Lihat/Sunting ManusiaLihat/Sunting Tikus

Desmin adalah protein yang pada manusia dikodekan oleh gen DES.[3][4] Desmin adalah filamen intermediat tipe III otot[5] yang terintegrasi di sarkolema, cakram Z dan selubung nukleus pada sarkomer, serta meregulasi arsitektur sarkomer.[6][7]

Referensi

  1. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  2. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ Muñoz-Mármol AM, Strasser G, Isamat M, Coulombe PA, Yang Y, Roca X, et al. (September 1998). "A dysfunctional desmin mutation in a patient with severe generalized myopathy". Proceedings of the National Academy of Sciences of the United States of America. 95 (19): 11312–11317. Bibcode:1998PNAS...9511312M. doi:10.1073/pnas.95.19.11312. PMC 21639. PMID 9736733.
  4. ^ Li ZL, Lilienbaum A, Butler-Browne G, Paulin D (May 1989). "Human desmin-coding gene: complete nucleotide sequence, characterization and regulation of expression during myogenesis and development". Gene. 78 (2): 243–254. doi:10.1016/0378-1119(89)90227-8. PMID 2673923.
  5. ^ "Desmin", The Human Protein Atlas. Proteinatlas.org. Retrieved on 2013-07-29.
  6. ^ Brodehl A, Gaertner-Rommel A, Milting H (August 2018). "Molecular insights into cardiomyopathies associated with desmin (DES) mutations". Biophysical Reviews. 10 (4): 983–1006. doi:10.1007/s12551-018-0429-0. PMC 6082305. PMID 29926427.
  7. ^ Sequeira V, Nijenkamp LL, Regan JA, van der Velden J (February 2014). "The physiological role of cardiac cytoskeleton and its alterations in heart failure". Biochimica et Biophysica Acta (BBA) - Biomembranes. 1838 (2): 700–722. doi:10.1016/j.bbamem.2013.07.011. PMID 23860255.

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