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Immunogen sequence: LAQEGRAPV ECPSLGPVPH RPPFEPGSAV ATVPPYLGPD TPALRTLSEY ARPHVMSPGN RNHPFYVPLG AVDPGLLGYN VPALYSSDPA AREREREARE RDLRDRLKPG FEVKPSELEP LHGVPGPGLD PFPRHGGLAL QPGPPGLHPF PFHPSLGPLE RERLALAAGP ALRPDMSYAE RLAAERQHAE RVAALGNDPL ARLQMLNVTP HHHQHSHIHS HLHLHQQDAI HAASASVHPL IDPLASGSHL TRIPYPAGTL PNPLLPHPLH ENEVLRHQLF AAPYRDLPAS LSAPMSAAHQ LQAMHAQSAE LQRLALEQQQ WLHAHHPLHS VPLPAQEDYY SHLKKESDKP L (842-1191 aa encoded by BC051795)
Dentatorubral pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. The disorder is related to the expansion from 7-35 copies to 49-93 copies of a trinucleotide repeat (CAG/CAA) within this gene. The encoded protein includes a serine repeat and a region of alternating acidic and basic amino acids, as well as the variable glutamine repeat. Alternative splicing results in two transcripts variants that encode the same protein.
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Protein Aliases: Atrophin-1; Atrophin1; dentatorubral pallidoluysian atrophy; Dentatorubral-pallidoluysian atrophy protein; Dentatorubral-pallidoluysian atrophy protein homolog
Gene Aliases: ATN1; Atr1; atrophin-1; B37; D12S755E; DRPLA; HRS; NOD
UniProt ID: (Human) P54259, (Mouse) O35126
Entrez Gene ID: (Human) 1822, (Mouse) 13498
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