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Androgen insensitivity syndrome; AIS

Disease ID:68
Name:Androgen insensitivity syndrome; AIS
Associated with:1 target
Complete androgen insensitivity syndrome
Database Links
Disease Ontology: DOID:4674
OMIM: 300068, 300274
Orphanet: ORPHA99429


Androgen receptor
Comments:  Transient transfection analysis of several AR mutations identified in AIS patients indicates that these mutations perturb AR ligand binding, DNA binding, or nuclear localization. Alteration at the receptor level: mutated
References:  1-2


No ligand related data available for Androgen insensitivity syndrome; AIS


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1. Choong CS, Sturm MJ, Strophair JA, McCulloch RK, Hurley DM. (1997) Reduced expression and normal nucleotide sequence of androgen receptor gene coding and promoter regions in a family with partial androgen insensitivity syndrome. Clin Endocrinol (Oxf), 46 (3): 281-8. [PMID:9156036]

2. Liegibel UM, Sommer U, Boercsoek I, Hilscher U, Bierhaus A, Schweikert HU, Nawroth P, Kasperk C. (2003) Androgen receptor isoforms AR-A and AR-B display functional differences in cultured human bone cells and genital skin fibroblasts. Steroids, 68 (14): 1179-87. [PMID:14643880]