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Sequence of this protein is as follows: MKTRQNKDSM SMRSGRKKEA PGPREELRSR GRASPGGVST SSSDGKAEKS RQTAKKARVE EASTPKVNKQ GRSEEISESE SEETNAPKKT KTEQELPRPQ SPSDLDSLDG
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Atrophin-1; Atrophin1; Dentatorubral-pallidoluysian atrophy protein
基因别名: ATN1; B37; D12S755E; DRPLA; HRS; NOD
UniProt ID: (Human) P54259
Entrez Gene ID: (Human) 1822