DYSF

DYSF
Strwythurau
PDB	Human UniProt search: PDBe RCSB
Rhestr o ddynodwyr PDB
	4CAH, 4CAI, 4IHB, 4IQH
Dynodwyr
Cyfenwau	DYSF, FER1L1, LGMD2B, MMD1, dysferlin, LGMDR2
Dynodwyr allanol	OMIM: 603009 HomoloGene: 20748 GeneCards: DYSF
Patrwm RNA pattern
	Rhagor o gyfeiriadau
Ontoleg y genyn
Gweithrediad moleciwlaidd	• calcium ion binding; • metal ion binding; • GO:0001948, GO:0016582 protein binding; • calcium-dependent phospholipid binding; • phospholipid binding; • lipid binding; • microtubule binding; • alpha-tubulin binding;
Cydrannau o'r gell	• integral component of membrane; • endosome; • late endosome; • bilen; • T-tubule; • Cellbilen; • endocytic vesicle; • early endosome; • sarcolemma; • extracellular exosome; • cytoplasmic vesicle membrane; • GO:0016023 cytoplasmic vesicle; • lamellipodium; • microtubule organizing center; • cnewyllyn cell; • Golgi apparatus; • microtubule; • membrane microdomain;
Prosesau biolegol	• muscle contraction; • plasma membrane repair; • vesicle fusion; • angiogenesis; • positive regulation of endothelial cell proliferation; • monocyte activation involved in immune response; • macrophage activation involved in immune response; • glycerol metabolic process; • negative regulation of gene expression; • lipid storage; • T-tubule organization; • GO:1903363 negative regulation of protein catabolic process; • skeletal muscle tissue regeneration; • fat cell differentiation; • positive regulation of cell adhesion; • negative regulation of phagocytosis; • cellular response to osmotic stress; • positive regulation of neutrophil chemotaxis; • regulation of calcium ion import; • negative regulation of high voltage-gated calcium channel activity; • negative regulation of protein polyubiquitination;
	Sources:Amigo / QuickGO
Orthologau
	8291
	n/a
	ENSG00000135636
	n/a
	O75923
	n/a
NM_001130455; NM_001130976; NM_001130977; NM_001130978; NM_001130979;
	NM_001130980; NM_001130981; NM_001130982; NM_001130983; NM_001130984; NM_001130985; NM_001130986; NM_001130987; NM_003494
	n/a
NP_001123927; NP_001124448; NP_001124449; NP_001124450; NP_001124451;
	NP_001124452; NP_001124453; NP_001124454; NP_001124455; NP_001124456; NP_001124457; NP_001124458; NP_001124459; NP_003485
	n/a
	Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn DYSF yw DYSF a elwir hefyd yn Dysferlin (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 2, band 2p13.2.^[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 DYSF.

MMD1
FER1L1
LGMD2B

Llyfryddiaeth

"Limited proteolysis as a tool to probe the tertiary conformation of dysferlin and structural consequences of patient missense variant L344P. ". J Biol Chem. 2017. PMID 28904177.
"Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy. ". Chin Med J (Engl). 2016. PMID 27647186.
"Dysferlin function in skeletal muscle: Possible pathological mechanisms and therapeutical targets in dysferlinopathies. ". Exp Neurol. 2016. PMID 27349407.
"Dysferlin Binds SNAREs (Soluble N-Ethylmaleimide-sensitive Factor (NSF) Attachment Protein Receptors) and Stimulates Membrane Fusion in a Calcium-sensitive Manner. ". J Biol Chem. 2016. PMID 27226605.
"Genetic Myopathies Initially Diagnosed and Treated as Inflammatory Myopathy.". Can J Neurol Sci. 2016. PMID 26911292.

Cyfeiriadau

[1] "Human PubMed Reference:".

[2] DYSF - Cronfa NCBI

[1]

[2]