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.
Applications:Suitable for use in Western Blot, Immunohistochemistry.
Other applications not tested.
Recommended Dilution:Western Blot: 1:500-1:1000Immunohistochemistry: 1:50-1:100Optimal dilutions to be determined by the researcher.
Storage and Stability:May be stored at 4°C for short-term only.
Aliquot to avoid repeated freezing and thawing.
Store at -20°C.
Aliquots are stable for 12 months after receipt.
For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.
仕様
Size：100ul
Host：rabbit
Source Antibody：human
Grade：Affinity Purified
Purity：Purified by immunoaffinity chromatography.
Form：Supplied as a liquid in PBS, pH 7.3, 0.02% sodium azide, 50% glycerol.
Specificity：Species Crossreactivity: mouse and rat
Isotype：IgG
Calc Applications Abbrev：IHC WB
Calc Crossreactivity：Hu Mo Rt
Immunogen：A synthetic peptide of human Androgen Receptor
