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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 24 products:
Human Polyclonal ANO5 Primary Antibody for IHC (p), WB - ABIN652521
Tsutsumi, Kamata, Vokes, Maruoka, Nakakuki, Enomoto, Omura, Amagasa, Nagayama, Saito-Ohara, Inazawa, Moritani, Yamaoka, Inoue, Itakura: The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD). in American journal of human genetics 2004
Show all 2 Pubmed References
First direct demonstration of Ca(2 (show CA2 Antibodies)+)-dependent Phospholipid scrambling activity for TMEM16E; this suggests a gain-of-function phenotype related to a Gnathodiaphyseal dysplasia mutation.
After Ano5 gene knock-down with shRNA in MC3T3-E1 osteoblast precursors the authors saw elevated expression of osteoblast-related genes such as Col1a1 (show COL1A1 Antibodies), osteocalcin (show BGLAP Antibodies), osterix (show SP7 Antibodies) and Runx2 (show RUNX2 Antibodies) as well as increased mineral nodule formation in differentiating cells. The data suggest that ANO5 plays a role in osteoblast differentiation.
The Limb-girdle muscular dystrophy 2L family was characterized by mild chronic myopathy and bilateral gastrocnemius hypertrophy with obviously increased creatine kinase levels. Pathological changes included atrophy of fibers with interstitial connective tissues hyperplasia. The pathogenic allele was a c.220C> T mutation in the ANO5 gene.
A heterozygous mutation in the ANO5 gene c.1067G > A (p.Cys356Tyr) was identified in both affected individuals in a Russian family with giant cementoma and bone fractures consistent with a diagnosis of gnathodiaphyseal dysplasia.
Results show that ANO5 is downregulated in thyroid cancer and, negatively associated with lymph node metastasis. Its inhibition promotes the migration and invasion of thyroid cancer cells suggesting it as a tumor marker.
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
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