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ANO5 encodes a member of the anoctamin family of transmembrane proteins. Additionally we are shipping Anoctamin 5 Proteins (5) and many more products for this protein.
Showing 10 out of 23 products:
Study characterized 12 newly identified and 2 previously identified patients with ANO5 mutations from 11 families. Material was genetically homogeneous with most patients homozygous for the Finnish founder variant c.2272C>T (p.Arg758Cys). In one family, study found a novel p.Met470Arg variant compound heterozygous with p.Arg758Cys.
Asymptomatic, sometimes mild hyperCKemia or exercise intolerance is a presentation of ANO5-related myopathy.
Here we show that Ano5-deficient mice have reduced capacity to repair the sarcolemma following laser-induced damage, exhibit delayed regeneration after cardiotoxin injury and suffer from defective myoblast fusion necessary for the proper repair and regeneration of multinucleated myotubes. these data suggest that ANO5 plays an important role in sarcolemmal membrane dynamics.
Study screened the ANO5 gene in 786 myopathic patients and 52 controls by combining NGS and Sanger sequencing. In the cohort of patients, thirty-three are homozygous or compound heterozygous for causative mutations in ANO5
supervised aerobic exercise training is safe and effective in improving oxidative capacity and muscle function in patients with anoctamin 5 deficiency
The present report describes an association between LGMD2L consequent upon mutation in ANO5 and macular dystrophy in one affected person.
Dilated cardiomyopathy is associated with mutations in the ANO5 gene.
ANO5 mutations can be associated with amyloid deposition in muscle
A high prevalence of ANO5 deficiency was found among patients with unclassified recessive limb girdle muscular dystrophy 2
a diagnosis of ANO5 causing Muscular Dystrophy, Limb-Girdle, Type 2L, in 16% of the families (11/68) in a well-defined limb girdle muscular dystrophy cohort in the Netherlands
TMEM16E(-/-) sperm showed no apparent defect in morphology, beating, mitochondrial function, capacitation, or binding to zona pellucida. However, they showed reduced motility and inefficient fertilization of cumulus-free but zona-intact eggs in vitro.
Ano5 mRNA and protein are widely expressed in the esophagus, stomach, duodenum, colon and rectum but Ano5 immunoreactivity are only detected in the mucosal layer, except for the muscular layer of the upper esophagus, which consists of skeletal muscle.
characterized the complete cDNA sequence and genomic organization of the mouse GDD1 gene
These observations suggest diverse cellular role(s) of GDD1 in the development of musculoskeletal system.
This gene encodes a member of the anoctamin family of transmembrane proteins. The encoded protein is likely a calcium activated chloride channel. Mutations in this gene have been associated with gnathodiaphyseal dysplasia. Alternatively spliced transcript variants have been described.
, transmembrane protein 16E
, gnathodiaphyseal dysplasia 1 protein
, integral membrane protein GDD1
, limb girdle muscular dystrophy 2L (autosomal recessive)
, gnathodiaphyseal dysplasia 1 protein homolog