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
Species	Bod dynol	Llygoden
Entrez	8291	n/a
Ensembl	ENSG00000135636	n/a
UniProt	O75923	n/a
RefSeq (mRNA)	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
RefSeq (protein)	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
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 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.

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.