Anti-ANO5 Antibody (CAB15218)
- SKU:
- CAB15218
- Product type:
- Antibody
- Reactivity:
- Human
- Mouse
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Cell Biology
Frequently bought together:
Description
Antibody Name: | Anti-ANO5 Antibody |
Antibody SKU: | CAB15218 |
Antibody Size: | 20uL, 50uL, 100uL |
Application: | WB |
Reactivity: | Human, Mouse, Rat |
Host Species: | Rabbit |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-300 of human ANO5 (NP_998764.1). |
Application: | WB |
Recommended Dilution: | WB 1:500 - 1:2000 |
Reactivity: | Human, Mouse, Rat |
Positive Samples: | mouse skeletal muscle, mouse brain, mouse heart, rat kidney, rat lung, rat skeletal muscle |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-300 of human ANO5 (NP_998764.1). |
Purification Method: | Affinity purification |
Storage Buffer: | Store at -20°C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
Isotype: | IgG |
Sequence: | MGDP DLLE VLAE EGEK VNKH IDYS FQMS EQSL SSRE TSFL INEE TMPA KRFN LFLR RRLM FQKN QQSK DSIF FRDG IRQI DFVL SYVD DVKK DAEL KAER RKEF ETNL RKTG LELE IEDK RDSE DGRT YFVK IHAP WEVL VTYA EVLG IKMP IKES DIPR PKHT PISY VLGP VRLP LSVK YPHP EYFT AQFS RHRQ ELFL IEDQ ATFF PSSS RNRI VYYI LSRC PFGI EDGK KRFG IERL LNSN TYSS AYPL HDGQ YWKP SEPP NPTN ERYT LHQN WARF SYFY KEQP LDLI KNYY GEKI |
Gene ID: | 203859 |
Uniprot: | Q75V66 |
Cellular Location: | Cell membrane, Endoplasmic reticulum membrane, Multi-pass membrane protein |
Calculated MW: | 107kDa |
Observed MW: | 107kDa |
Synonyms: | ANO5, GDD1, LGMD2L, TMEM16E |
Background: | 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. |
UniProt Protein Function: | 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. |
UniProt Protein Details: | Protein type:Membrane protein, integral; Membrane protein, multi-pass; Channel, chloride; Transporter; Transporter, ion channel Chromosomal Location of Human Ortholog: 11p14.3 Cellular Component: endoplasmic reticulum membrane; integral to membrane; plasma 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 |
NCBI Summary: | 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 Code: | Q75V66 |
NCBI GenInfo Identifier: | 74749827 |
NCBI Gene ID: | 203859 |
NCBI Accession: | Q75V66.1 |
UniProt Related Accession: | Q75V66 |
Molecular Weight: | 107,188 Da |
NCBI Full Name: | Anoctamin-5 |
NCBI 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 |
UniProt Protein Name: | Anoctamin-5 |
UniProt Synonym Protein Names: | Gnathodiaphyseal dysplasia 1 protein; Transmembrane protein 16E |
Protein Family: | Anoctamin |
UniProt Gene Name: | ANO5 |
UniProt Entry Name: | ANO5_HUMAN |