NP_001258808.1
[Other Products]
NCBI GenBank Nucleotide #
|
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
99,908 Da
NCBI Official Full Name
anoctamin-5 isoform 2
NCBI Official Synonym Full Names
anoctamin 5
NCBI Protein Information
anoctamin-5; transmembrane protein 16E; integral membrane protein GDD1; gnathodiaphyseal dysplasia 1 protein homolog
UniProt Protein Name
Anoctamin-5
UniProt Synonym Protein Names
Gnathodiaphyseal dysplasia 1 protein homolog; Transmembrane protein 16E
UniProt Synonym Gene Names
UniProt Entry Name
ANO5_MOUSE
NCBI Summary for ANO5
This gene encodes a member of the anoctamin family, which in mammals is comprised of 10 members. Anoctamin proteins are proposed to have eight transmembrane domains with both termini facing the cytoplasm and a C-terminal domain of unknown function. While some members have been characterized as calcium-activated chloride channels, this protein is reported to have little anion conductance activity. Elevated levels of this protein were found in dystrophic mice. In humans, mutations of this gene are associated with with musculoskeletal disorders such as myopathies, muscular dystrophy and gnathodiaphyseal dysplasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
UniProt Comments for ANO5
ANO5: May act as a calcium-activated chloride channel. Defects in ANO5 are the cause of gnathodiaphyseal dysplasia (GDD); also known as osteogenesis imperfecta with unusual skeletal lesions or gnathodiaphyseal sclerosis. GDD is a rare skeletal syndrome characterized by bone fragility, sclerosis of tubular bones, and cemento-osseous lesions of the jawbone. Patients experience frequent bone fractures caused by trivial accidents in childhood; however the fractures heal normally without bone deformity. The jaw lesions replace the tooth-bearing segments of the maxilla and mandible with fibrous connective tissues, including various amounts of cementum-like calcified mass, sometimes causing facial deformities. Patients also have a propensity for jaw infection and often suffer from purulent osteomyelitis-like symptoms, such as swelling of and pus discharge from the gums, mobility of the teeth, insufficient healing after tooth extraction and exposure of the lesions into the oral cavity. Defects in ANO5 are the cause of limb-girdle muscular dystrophy type 2L (LGMD2L). It is an autosomal recessive degenerative myopathy characterized by proximal weakness, weakness of the hip and shoulder girdles and prominent asymmetrical quadriceps femoris and biceps brachii atrophy. Defects in ANO5 are the cause of miyoshi muscular dystrophy type 3 (MMD3). It is a late-onset muscular dystrophy characterized by distal muscle weakness of the lower limbs, calf muscle discomfort and weakness, quadriceps atrophy. Muscle weakness and atrophy may be asymmetric. Belongs to the anoctamin family.
Protein type: Membrane protein, multi-pass; Transporter; Transporter, ion channel; Channel, chloride; Membrane protein, integral
Cellular Component: membrane; endoplasmic reticulum; plasma membrane; integral to membrane; intracellular; vesicle
Molecular Function: phospholipid scramblase activity; intracellular calcium activated chloride channel activity
Biological Process: chloride transport
Research Articles on ANO5
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Products associated with ANO5 elisa kit
Pathways associated with ANO5 elisa kit
Diseases associated with ANO5 elisa kit
Organs/Tissues associated with ANO5 elisa kit
|