DMD

DMD
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 1DXX, 1EG3, 1EG4, 3UUN
Dynodwyr
Cyfenwau	DMD, BMD, CMD3B, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, MRX85, dystrophin
Dynodwyr allanol	OMIM: 300377 HomoloGene: 20856 GeneCards: DMD
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • nitric-oxide synthase binding • dystroglycan binding • vinculin binding • myosin binding • zinc ion binding • metal ion binding • GO:0001948, GO:0016582 protein binding • actin binding • structural constituent of muscle • structural constituent of cytoskeleton Cydrannau o'r gell • cytoplasm • cytosol • postsynaptic membrane • lateral plasma membrane • bilen • filopodium • cell-substrate junction • Cellbilen • synapse • dystrophin-associated glycoprotein complex • cell surface • cell junction • Z disc • actin cytoskeleton • membrane raft • sarcolemma • costamere • syntrophin complex • neuron projection terminus • Cytosgerbwd • cnewyllyn cell • filopodium membrane • GO:0009327 protein-containing complex Prosesau biolegol • response to muscle stretch • regulation of ryanodine-sensitive calcium-release channel activity • cardiac muscle cell action potential • regulation of voltage-gated calcium channel activity • cardiac muscle contraction • muscle cell cellular homeostasis • negative regulation of peptidyl-cysteine S-nitrosylation • regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion • peptide biosynthetic process • muscle organ development • regulation of heart rate • positive regulation of neuron differentiation • negative regulation of peptidyl-serine phosphorylation • positive regulation of neuron projection development • muscle filament sliding • positive regulation of sodium ion transmembrane transporter activity • regulation of cellular response to growth factor stimulus • regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum • motile cilium assembly • regulation of skeletal muscle contraction • regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion • cytoskeleton organization Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	1756	n/a
Ensembl	ENSG00000198947	n/a
UniProt	P11532	n/a
RefSeq (mRNA)	NM_000109 NM_004006 NM_004007 NM_004009 NM_004010 NM_004011 NM_004012 NM_004013 NM_004014 NM_004015 NM_004016 NM_004017 NM_004018 NM_004019 NM_004020 NM_004021 NM_004022 NM_004023	n/a
RefSeq (protein)	NP_000100 NP_003997 NP_004000 NP_004001 NP_004002 NP_004003 NP_004004 NP_004005 NP_004006 NP_004007 NP_004008 NP_004009 NP_004010 NP_004011 NP_004012 NP_004013 NP_004014	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn DMD yw DMD a elwir hefyd yn Dystrophin (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn ôl o gromosom X dynol, band Xp21.2-p21.1.

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 DMD.

• BMD
• CMD3B
• MRX85
• DXS142
• DXS164
• DXS206
• DXS230
• DXS239
• DXS268
• DXS269
• DXS270
• DXS272

Llyfryddiaeth

• "[Unexpected discovery of a fetus with DMD gene deletion using single nucleotide polymorphism array]. ". Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017. PMID 28777860.
• "Normal and altered pre-mRNA processing in the DMD gene. ". Hum Genet. 2017. PMID 28597072.
• "A rare subclinical or mild type of Becker muscular dystrophy caused by a single exon 48 deletion of the dystrophin gene. ". J Appl Genet. 2017. PMID 28247318.
• "Genomic integration of the full-length dystrophin coding sequence in Duchenne muscular dystrophy induced pluripotent stem cells. ". Biotechnol J. 2017. PMID 28139886.
• "Comparison of the phenotypes of patients harboring in-frame deletions starting at exon 45 in the Duchenne muscular dystrophy gene indicates potential for the development of exon skipping therapy.". J Hum Genet. 2017. PMID 27974813.