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ANO5 encodes a member of the anoctamin family of transmembrane proteins. Additionally we are shipping Anoctamin 5 Antibodies (23) and Anoctamin 5 Proteins (5) and many more products for this protein.
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
investigated the prevalence and spectrum of ANO5 gene mutations and related clinical phenotypes; study confirmed that ANO5 gene mutations are responsible for about one fourth of cases of undiagnosed muscular dystrophy in the population studied
This study showed that TMEM16E possesses distinct function other than chloride channel (show CLCA1 ELISA Kits) activity, and another protein-stabilizing machinery toward the TMEM16E proteins should be considered for the on-set regulation of their phenotypes in tissues.
By sequencing the entire ANO5 gene coding region and untranslated regions in a large Italian gnathodiaphyseal dyplasia family, a novel missense mutation causing the p.Thr513Ile substitution, was found.
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