Dysferlin

DYSF
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	4CAH, 4CAI, 4IHB, 4IQH
Identifiers
Aliases	DYSF, FER1L1, LGMD2B, MMD1, dysferlin, LGMDR2
External IDs	OMIM: 603009 MGI: 1349385 HomoloGene: 20748 GeneCards: DYSF
Gene location (Human)
Chr.	Chromosome 2 (human)
End	71,686,763 bp
Gene location (Mouse)
Chr.	Chromosome 6 (mouse)
End	84,188,042 bp
RNA expression pattern
	Top expressed in
	blood; ; triceps brachii muscle; ; vastus lateralis muscle; ; external globus pallidus; ; gastrocnemius muscle; ; deltoid muscle; ; spleen; ; right ventricle; ; tibialis anterior muscle; ; left ventricle;
	Top expressed in
	soleus muscle; ; skeletal muscle tissue; ; interventricular septum; ; yolk sac; ; triceps brachii muscle; ; temporal muscle; ; quadriceps femoris muscle; ; digastric muscle; ; myocardium of ventricle; ; gastrocnemius muscle;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	calcium ion binding; metal ion binding; protein binding; calcium-dependent phospholipid binding; phospholipid binding; lipid binding; microtubule binding; alpha-tubulin binding;
Cellular component	integral component of membrane; endosome; late endosome; membrane; T-tubule; plasma membrane; endocytic vesicle; early endosome; sarcolemma; extracellular exosome; cytoplasmic vesicle membrane; cytoplasmic vesicle; lamellipodium; microtubule organizing center; nucleus; Golgi apparatus; microtubule; membrane microdomain;
Biological process	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; 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
Orthologs
	8291
	26903
	ENSG00000135636
	ENSMUSG00000033788
	O75923
	Q9ESD7
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
	NM_001077694; NM_021469; NM_001310152
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
NP_001071162; NP_001297081; NP_067444; NP_001390584; NP_001390585;
	NP_001390586; NP_001390587
	Wikidata
View/Edit Human	View/Edit Mouse

Dysferlin also known as dystrophy-associated fer-1-like protein is a protein that in humans is encoded by the DYSF gene. Dysferlin is linked with plasma membrane repair., stabilization of calcium signaling and the development of the T-tubule system of the muscle A defect in the DYSF gene, located on chromosome 2p12-14, results in several types of muscular dystrophy; including Miyoshi myopathy (MM), Limb-girdle muscular dystrophy type 2B (LGMD2B) and Distal Myopathy (DM). A reduction or absence of dysferlin, termed dysferlinopathy, usually becomes apparent in the third or fourth decade of life and is characterised by weakness and wasting of various voluntary skeletal muscles. Pathogenic mutations leading to dysferlinopathy can occur throughout the DYSF gene.

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