※ PTMD 2.0 database Online Browse Options
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
Reference
Wiki: Spinal and bulbar muscular atrophy
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD00090 | P10275 | 367 | AR | Androgen receptor | Homo sapiens |
| PTMD00265 | P53396 | 47 | ACLY | ATP-citrate synthase -lyase) | Homo sapiens |
