DSP

DSP
Strwythurau
PDB	Human UniProt search: PDBe RCSB
Rhestr o ddynodwyr PDB
	3R6N, 1LM5, 1LM7, 5DZZ
Dynodwyr
Cyfenwau	DSP, DCWHKTA, DP, DPI, DPII, desmoplakin
Dynodwyr allanol	OMIM: 125647 HomoloGene: 37922 GeneCards: DSP
Patrwm RNA pattern
	Rhagor o gyfeiriadau
Ontoleg y genyn
Gweithrediad moleciwlaidd	• protein-macromolecule adaptor activity; • scaffold protein binding; • structural molecule activity; • structural constituent of cytoskeleton; • GO:0001948, GO:0016582 protein binding; • cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication; • cell adhesion molecule binding; • protein kinase C binding; • RNA binding;
Cydrannau o'r gell	• cytoplasm; • bilen; • intercalated disc; • cell-cell junction; • Cellbilen; • desmosome; • cell junction; • basolateral plasma membrane; • fascia adherens; • extracellular exosome; • Cytosgerbwd; • intermediate filament; • cnewyllyn cell; • GO:0005578 extracellular matrix; • cornified envelope; • ficolin-1-rich granule membrane;
Prosesau biolegol	• intermediate filament organization; • desmosome organization; • ventricular compact myocardium morphogenesis; • wound healing; • bundle of His cell-Purkinje myocyte adhesion involved in cell communication; • keratinocyte differentiation; • GO:0051357, GO:0051358, GO:0051359 peptide cross-linking; • protein localization to adherens junction; • epidermis development; • intermediate filament cytoskeleton organization; • adherens junction organization; • regulation of heart rate by cardiac conduction; • regulation of ventricular cardiac muscle cell action potential; • skin development; • keratinization; • neutrophil degranulation; • cornification; • cell-cell adhesion;
	Sources:Amigo / QuickGO
Orthologau
	1832
	n/a
	ENSG00000096696
	n/a
	P15924
	n/a
	NM_001008844; NM_004415; NM_001319034
	n/a
	NP_001008844; NP_001305963; NP_004406
	n/a
	Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn DSP yw DSP a elwir hefyd yn Desmoplakin (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn blaen o gromosom dynol 6, band 6p24.3.^[2]

Cyfystyron

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn DSP.

DP
DCWHKTA

Llyfryddiaeth

"Novel truncating desmoplakin mutation as a potential cause of sudden cardiac death in a family. ". Pol Arch Med Wewn. 2016. PMID 27698334.
"Progressive cardiac conduction disease associated with a DSP gene mutation. ". Int J Cardiol. 2016. PMID 27166992.
"Desmoplakin Variants Are Associated with Idiopathic Pulmonary Fibrosis. ". Am J Respir Crit Care Med. 2016. PMID 26669357.
"Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome. ". Hum Mol Genet. 2016. PMID 26604139.
"Identification of rare variants of DSP gene in sudden unexplained nocturnal death syndrome in the southern Chinese Han population.". Int J Legal Med. 2016. PMID 26585738.

Cyfeiriadau

[1] "Human PubMed Reference:".

[2] DSP - Cronfa NCBI

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[2]