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Spinal and bulbar muscular atrophy, X-linked 1; SMAX1

Disease ID:874
Name:Spinal and bulbar muscular atrophy, X-linked 1; SMAX1
Associated with:1 target
Kennedy disease | Kennedy's disease
Database Links
Disease Ontology: DOID:0060161
OMIM: 313200
Orphanet: ORPHA481


Androgen receptor
Comments:  Spinobulbar muscular atrophy (SBMA) is an X-linked form of motor neuron disease characterized by progressive atrophy of the muscles, dysphagia, dysarthria and mild androgen insensitivity. SMBA is caused by CAG repeat expansion in the androgen receptor gene.
References:  1-3


No ligand related data available for Spinal and bulbar muscular atrophy, X-linked 1; SMAX1


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1. MacLean HE, Choi WT, Rekaris G, Warne GL, Zajac JD. (1995) Abnormal androgen receptor binding affinity in subjects with Kennedy's disease (spinal and bulbar muscular atrophy). J. Clin. Endocrinol. Metab., 80 (2): 508-16. [PMID:7852512]

2. Neuschmid-Kaspar F, Gast A, Peterziel H, Schneikert J, Muigg A, Ransmayr G, Klocker H, Bartsch G, Cato AC. (1996) CAG-repeat expansion in androgen receptor in Kennedy's disease is not a loss of function mutation. Mol. Cell. Endocrinol., 117 (2): 149-56. [PMID:8737374]

3. Sułek A, Hoffman-Zacharska D, Krysa W, Szirkowiec W, Fidziańska E, Zaremba J. (2005) CAG repeat polymorphism in the androgen receptor (AR) gene of SBMA patients and a control group. J. Appl. Genet., 46 (2): 237-9. [PMID:15876692]