Anoctamine-5
| Anoctamine-5 | ||
|---|---|---|
| Properties of human protein | ||
| Mass / length primary structure | 913 aa | |
| Secondary to quaternary structure | Multipass transmembrane protein | |
| Identifier | ||
| Gene name | ANO5 | |
| External IDs | ||
| Transporter classification | ||
| TCDB | 1.A.17 | |
| designation | Calcium-dependent chloride channels | |
| Occurrence | ||
| Parent taxon | Vertebrates | |
Anoctamin-5 is a protein found in vertebrates . It is encoded by the ANO5 gene , which is located on chromosome 11 (11p14.3) in humans. Anoctamin-5 is a multi-pass transmembrane protein of the endoplasmic reticulum with 8 transmembrane domains. The function of anoctamine-5 is not yet known. It is assumed that it functions as a calcium-activated chloride channel. Anoctamine-5 could play an important role in the development of the muscular and skeletal systems.
Medical importance
Several mutations in the ANO5 gene are known. The mutations are held responsible for three different allelic diseases :
- Gnatho-diaphyseal dysplasia (GDD)
- Belt dystrophy 2L (LGMD2L)
- Miyoshi muscular dystrophy 3 (MDD3)
further reading
- J. Schessl, W. Kress, B. Schoser: Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy. In: Muscle & nerve. Volume 45, number 5, May 2012, pp. 740-742, doi : 10.1002 / mus.23281 . PMID 22499103 .
- S. Penttilä, J. Palmio, T. Suominen, O. Raheem, A. Evilä, N. Muelas Gomez, G. Tasca, LB Waddell, NF Clarke, A. Barboi, P. Hackman, B. Udd: Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5. In: Neurology. Volume 78, Number 12, March 2012, pp. 897-903, doi : 10.1212 / WNL.0b013e31824c4682 . PMID 22402862 .
- M. Deschauer, PR Joshi, D. Glasses, F. Hanisch, G. Stoltenburg, S. Zierz: [Muscular dystrophy due to mutations in anoctamin 5: clinical and molecular genetic findings]. In: The neurologist. Volume 82, Number 12, December 2011, pp. 1596-1603, doi : 10.1007 / s00115-011-3325-4 . PMID 21739273 .
- D. Hicks, A. Sarkozy, et al. a .: A founder mutation in Anoctamine 5 is a major cause of limb-girdle muscular dystrophy. In: Brain: a journal of neurology. Volume 134, Pt 1 January 2011, pp. 171-182, doi : 10.1093 / brain / awq294 . PMID 21186264 .
- I. Mahjneh, J. Jaiswal et al. a .: A new distal myopathy with mutation in anoctamine 5. In: Neuromuscular disorders: NMD. Volume 20, number 12, December 2010, pp. 791-795, doi : 10.1016 / j.nmd.2010.07.270 . PMID 20692837 .
- V. Bolduc, G. Marlow et al. a .: Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. In: American Journal of Human Genetics . Volume 86, number 2, February 2010, pp. 213-221, doi : 10.1016 / j.ajhg.2009.12.013 . PMID 20096397 . PMC 2820170 (free full text).
- S. Tsutsumi, N. Kamata, et al. a .: The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD). In: American Journal of Human Genetics . Volume 74, Number 6, June 2004, pp. 1255-1261, doi : 10.1086 / 421527 . PMID 15124103 . PMC 1182089 (free full text).
Individual evidence
- ↑ Orthologist at OMA
- ↑ J. Schessl, W. Kress, B. Schoser: Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy. In: Muscle & nerve. Volume 45, number 5, May 2012, pp. 740-742, doi : 10.1002 / mus.23281 . PMID 22499103 .
- ↑ Anoctamine-5. In: Online Mendelian Inheritance in Man . (English)
- ↑ GDD. In: Online Mendelian Inheritance in Man . (English)
- ↑ LGMD2L. In: Online Mendelian Inheritance in Man . (English)
- ↑ MDD3. In: Online Mendelian Inheritance in Man . (English)