Human Anoctamin 5 (ANO5) ELISA Kit | ANO5 elisa kit

Human Anoctamin 5 (ANO5) ELISA Kit

Cat. Num. AAA9301864

• Gene Names: ANO5; GDD1; LGMD2L; TMEM16E
• Reactivity: Human
• Synonyms: Anoctamin 5 (ANO5); Human Anoctamin 5 (ANO5) ELISA Kit; ANO5 elisa kit

• Reactivity: Human
• Specificity: No significant cross-reactivity or interference between this analyte and analogues is observed.

• Samples: Undiluted original Human body fluids, tissue homogenates, secretions or feces samples. This kit is NOT suitable for assaying non-biological sources of substances.
• Assay Type: Sandwich
• Detection Range: 0.5 ng/ml - 16 ng/ml.
• Sensitivity: 0.1ng/ml.
• Intra-assay Precision: Intra-assay CV (%) is less than 15%.
• Inter-assay Precision: Inter-assay CV (%) is less than 15%. [CV(%) = SD/mean ×100].
• Preparation and Storage: Store all reagents at 2-8 degree C

Related Product Information for ANO5 elisa kit

Background/Introduction: This Quantitative Sandwich ELISA kit is only for in vitro research use only! This kit is intended to be used for determination the level of ANO5 (hereafter termed "analyte") in undiluted original Human body fluids, tissue homogenates, secretions or feces samples. This kit is NOT suitable for assaying non-biological sources of substances.

NCBI and Uniprot Product Information

• NCBI GI #: 218081589
• NCBI GeneID: 203859
• NCBI Accession #: NP_001136121.1
• NCBI GenBank Nucleotide #: NM_001142649.1
• UniProt Accession #: Q75V66
• Molecular Weight: 107,188 Da
• NCBI Official Full Name: anoctamin-5 isoform b
• NCBI Official Synonym Full Names: anoctamin 5
• NCBI Official Symbol: ANO5
• NCBI Official Synonym Symbols: GDD1; LGMD2L; TMEM16E
• NCBI Protein Information: anoctamin-5; transmembrane protein 16E; integral membrane protein GDD1; gnathodiaphyseal dysplasia 1 protein; limb girdle muscular dystrophy 2L (autosomal recessive)
• UniProt Protein Name: Anoctamin-5
• Protein Family: Anoctamin
• UniProt Gene Name: ANO5
• UniProt Synonym Gene Names: GDD1; TMEM16E
• UniProt Entry Name: ANO5_HUMAN

NCBI Description

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. [provided by RefSeq, Nov 2009]

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

Chromosomal Location of Human Ortholog: 11p14.3

Cellular Component: endoplasmic reticulum membrane; plasma membrane; integral to membrane; intracellular; vesicle

Molecular Function: intracellular calcium activated chloride channel activity

Biological Process: chloride transport; transmembrane transport

Disease: Gnathodiaphyseal Dysplasia; Muscular Dystrophy, Limb-girdle, Type 2l; Miyoshi Muscular Dystrophy 3