Recombinant Human Anoctamin-5 (ANO5), partial

1. First direct demonstration of Ca(2+)-dependent Phospholipid scrambling activity for TMEM16E; this suggests a gain-of-function phenotype related to a Gnathodiaphyseal dysplasia mutation. PMID: 29124309
2. After Ano5 gene knock-down with shRNA in MC3T3-E1 osteoblast precursors the authors saw elevated expression of osteoblast-related genes such as Col1a1, osteocalcin, osterix and Runx2 as well as increased mineral nodule formation in differentiating cells. The data suggest that ANO5 plays a role in osteoblast differentiation. PMID: 28176803
3. 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. PMID: 30235762
4. 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. PMID: 27216912
5. 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. PMID: 28902351
6. 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. PMID: 27911336
7. Asymptomatic, sometimes mild hyperCKemia or exercise intolerance is a presentation of ANO5-related myopathy. PMID: 28187523
8. 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. PMID: 26911675
9. 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 PMID: 25891276
10. supervised aerobic exercise training is safe and effective in improving oxidative capacity and muscle function in patients with anoctamin 5 deficiency PMID: 24639367
11. The present report describes an association between LGMD2L consequent upon mutation in ANO5 and macular dystrophy in one affected person. PMID: 24232312
12. Dilated cardiomyopathy is associated with mutations in the ANO5 gene. PMID: 23041008
13. ANO5 mutations can be associated with amyloid deposition in muscle PMID: 23663589
14. A high prevalence of ANO5 deficiency was found among patients with unclassified recessive limb girdle muscular dystrophy 2 PMID: 23670307
15. 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 PMID: 23607914
16. 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 PMID: 23606453
17. This study showed that TMEM16E possesses distinct function other than chloride channel activity, and another protein-stabilizing machinery toward the TMEM16E proteins should be considered for the on-set regulation of their phenotypes in tissues. PMID: 23843187
18. 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. PMID: 23047743
19. occurrence and molecular epidemiology of LGMD2L, caused by mutations in the anoctamin 5 (ANO5) gene, in a Italian cohort differed from those observed in other European countries. PMID: 22742934
20. This study demonistrayed that anoctamin 5 mutations associate to distal muscular dystrophy. PMID: 22980764
21. A family is described in which 2 mutations in ANO5 segregate with marked creatine kinase-type hypercreatinemia, demonstrating that recessively inherited ANO5 mutations not only lead to muscular dystrophy but may also cause bone disease. PMID: 23055322
22. The c.191dupA mutation, already reported as a founder mutation in Caucasian patients with anoctamin myopathies, was found in our family in a heterozygous state. PMID: 22336395
23. This study identified four novel mutations in the ANO5 gene cause high lever Creatine Kinase and limb girdle muscular weakness and Miyoshi type of muscular dystrophy. PMID: 22499103
24. Mutations are distributed all over the gene, indicating that muscular dystrophy caused by ANO5 can be expected to occur in all populations PMID: 22402862
25. mutation in patients with a distal myopathy;(a new separate clinical, genetic and histopathologic entity) PMID: 20692837
26. A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy. PMID: 21186264
27. Recessive mutations were identified in ANO5 that result in a proximal limb-girdle muscular dystrophy (LGMD2L) in three French Canadian families and in a distal non-dysferlin Miyoshi myopathy (MMD3) in Dutch and Finnish families. PMID: 20096397

显示更多

收起更多

HGNC: 27337

OMIM: 166260

KEGG: hsa:203859

STRING: 9606.ENSP00000315371

UniGene: Hs.154329