Mouse Anoctamin-5 (ANO5) ELISA Kit | ANO5 elisa kit

Mouse Anoctamin-5 (ANO5) ELISA Kit

Cat. Num. AAA7233676

• Gene Names: Ano5; Gdd1; Tmem16e; 9330162L24
• Reactivity: Mouse
• Synonyms: Anoctamin-5 (ANO5); Mouse Anoctamin-5 (ANO5) ELISA Kit; ANO5 elisa kit

• Reactivity: Mouse

• Samples: Serum, plasma, Cell Culture Supernatants, body fluid and tissue homogenate
• Assay Type: Competitive
• Detection Range: 25.-5000pg/mL
• Sensitivity: 1.0pg/mL
• Preparation and Storage: Store all reagents at 2-8 degree C.

Product Categories/Family for ANO5 elisa kit

Cell Biology

NCBI and Uniprot Product Information

• NCBI GI #: 428673539
• NCBI GeneID: 233246
• NCBI Accession #: NP_001258808.1
• NCBI GenBank Nucleotide #: NM_001271879.1
• Molecular Weight: 99,908 Da
• NCBI Official Full Name: anoctamin-5 isoform 2
• NCBI Official Synonym Full Names: anoctamin 5
• NCBI Official Symbol: Ano5
• NCBI Official Synonym Symbols: Gdd1; Tmem16e; 9330162L24
• NCBI Protein Information: anoctamin-5; transmembrane protein 16E; integral membrane protein GDD1; gnathodiaphyseal dysplasia 1 protein homolog
• UniProt Protein Name: Anoctamin-5
• Protein Family: Anoctamin
• UniProt Gene Name: Ano5
• UniProt Synonym Gene Names: Gdd1; Tmem16e
• UniProt Entry Name: ANO5_MOUSE

NCBI Description

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 Description

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: Transporter; Membrane protein, integral; Membrane protein, multi-pass; Transporter, ion channel; Channel, chloride

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