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Browse result for Spinal and bulbar muscular atrophy

※ introduction

    Spinal and bulbar muscular atrophy (SBMA), popularly known as Kennedy's disease, is a rare, adult-onset, X-linked recessive lower motor neuron disease caused by trinucleotide CAG repeat expansions in exon 1 of the androgen receptor (AR) gene, which results in both loss of AR function and toxic gain of function.[2][3]

Reference
Wiki: Spinal and bulbar muscular atrophy



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD00090P10275367
AR
Androgen receptor
Homo sapiens
PTMD00265P5339647
ACLY
ATP-citrate synthase -lyase)
Homo sapiens