AR Antibody

Datasheet
Code CSB-PA001975KA01HU
Product Type Rabbit Anti Human PolyClonal Antibody
Size US$398
Uniprot No. P10275
Immunogen A synthetic peptide of Human Androgen Receptor
Raised in Rabbit
Species Reactivity Human,Mouse,Rat
Tested Applications ELISA,WB,IHC,ICC;WB:1:500-1:1000,IHC:1:50-1:100,ICC:1:50-1:100
Relevance Steroid hormone receptors are ligand-activated transcription factors that regulate eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues. Transcription factor activity is modulated by bound coactivator and corepressor proteins. Transcription activation is down-regulated by NR0B2. Activated, but not phosphorylated, by HIPK3 and ZIPK/DAPK3. Defects in AR are the cause of androgen insensitivity syndrome (AIS) [MIM:300068]; previously known as testicular feminization syndrome (TFM). AIS is an X-linked recessive form of pseudohermaphroditism due end-organ resistance to androgen. Affected males have female external genitalia, female breast development, blind vagina, absent uterus and female adnexa, and abdominal or inguinal testes, despite a normal 46,XY karyotype. Defects in AR are the cause of spinal and bulbar muscular atrophy X-linked type 1 (SMAX1) [MIM:313200]; also known as Kennedy disease. SMAX1 is an X-linked recessive form of spinal muscular atrophy. Spinal muscular atrophy refers to a group of neuromuscular disorders characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. SMAX1 occurs only in men. Age at onset is usually in the third to fifth decade of life, but earlier involvement has been reported. It is characterized by slowly progressive limb and bulbar muscle weakness with fasciculations, muscle atrophy, and gynecomastia. The disorder is clinically similar to classic forms of autosomal spinal muscular atrophy. Note=Caused by trinucleotide CAG repeat expansion. In SMAX1 patients the number of Gln ranges from 38 to 62. Longer expansions result in earlier onset and more severe clinical manifestations of the disease. Defects in AR are the cause of androgen insensitivity syndrome partial (PAIS) [MIM:312300]; also known as Reifenstein syndrome. PAIS is characterized by hypospadias, hypogonadism, gynecomastia, genital ambiguity, normal XY karyotype, and a pedigree pattern consistent with X-linked recessive inheritance. Some patients present azoospermia or severe oligospermia without other clinical manifestations.
Storage Buffer Store at -20°C or -80°C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Purification Method Affinity purification
Isotype IgG
Alias AR; DHTR; NR3C4
Immunogen Species Homo sapiens (Human)
Protocols ELISA Protocol
Western Blotting(WB) Protocol
Immunohistochemistry (IHC) Protocol
Research Area Transcription
Intended Use For research use only. Not for human, diagnostic or therapeutic use.
Target Names AR
Storage Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Target Details The androgen receptor gene is more than 90 kb long and codes for a protein that has 3 major functional domains: the N-terminal domain, DNA-binding domain, and androgen-binding domain. The protein functions as a steroid-hormone activated transcription factor. Upon binding the hormone ligand, the receptor dissociates from accessory proteins, translocates into the nucleus, dimerizes, and then stimulates transcription of androgen responsive genes. This gene contains 2 polymorphic trinucleotide repeat segments that encode polyglutamine and polyglycine tracts in the N-terminal transactivation domain of its protein. Expansion of the polyglutamine tract causes spinal bulbar muscular atrophy (Kennedy disease). Mutations in this gene are also associated with complete androgen insensitivity (CAIS). Two alternatively spliced variants encoding distinct isoforms have been described.
HGNC 28808
RGD 1311435
MGI 2384822
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Function Steroid hormone receptors are ligand-activated transcription factors that regulate eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues. Transcription factor activity is modulated by bound coactivator and corepressor proteins. Transcription activation is down-regulated by NR0B2. Activated, but not phosphorylated, by HIPK3 and ZIPK/DAPK3.
Involvement in disease Androgen insensitivity syndrome (AIS); Spinal and bulbar muscular atrophy X-linked 1 (SMAX1); Androgen insensitivity, partial (PAIS)
Subcellular Location Nucleus, Cytoplasm
Protein Families Nuclear hormone receptor family, NR3 subfamily
Tissue Specificity Isoform 2 is mainly expressed in heart and skeletal muscle (PubMed:15634333). Isoform 3 is expressed by basal and stromal cells of prostate (at protein level) (PubMed:19244107).
Database Links

HGNC: 644

OMIM: 300068

KEGG: hsa:367

STRING: 9606.ENSP00000363822

UniGene: Hs.76704

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