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Immunogen sequence: ELRVEQESL LTAFRCGLQF LGNIASRNED SQSIVWVHAF PELFLSCLNH PDKKIVAYSS MILFTSLNHE RMKELEENLN IAIDVIDAYQ KHPESEWPFL IITDLFLKSP ELVQAMFPKL NNQERVTLLD LMIAKITSDE PLTKDDIPVF LRHAELIAST FVDQCKTVLK LASEEPPDDE EALATIRLLD VLCEMTVNTE LLGYLQVFPG LLERVIDLLR VIHVAGKETT NIFSNCGCVR AEGDISNVAN GFKSHLIRLI GNLCYKNKDN QDKVNELDGI PLILDNCNIS DSNPFLTQWV IYAIRNLTED NSQNQDLIAK MEEQGLADAS LLKKVGFEVE KKGEKLILKS TRDTPKP (120-475 aa encoded by BC007508 )
The autosomal dominant cerebellar ataxias (ADCAs) are a clinically and genetically heterogeneous group of disorders characterized by ataxia, dysarthria, dysmetria, and intention tremor. All ADCAs involve some degree of cerebellar dysfunction and a varying degree of signs from other components of the nervous system. A commonly accepted clinical classification (Harding, 1993) divides ADCAs into 3 different groups based on the presence or absence of associated symptoms such as brainstem signs or retinopathy. The presence of pyramidal and extrapyramidal symptoms and ophthalmoplegia makes the diagnosis of ADCA I, the presence of retinopathy points to ADCA II, and the absence of associated signs to ADCA III. Genetic linkage and molecular analyses revealed that ADCAs are genetically heterogeneous even within the various subtypes.
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: ataxin 10 homolog; Ataxin-10; Brain protein E46; Brain protein E46 homolog; Neuronal beta-catenin-like protein; spinocerebellar ataxia 10; spinocerebellar ataxia 10 homolog; Spinocerebellar ataxia type 10 protein; Spinocerebellar ataxia type 10 protein homolog; testis expressed gene 169
基因别名: AI325283; ATXN10; C77170; E46; E46L; HUMEEP; SCA10; TEG-169; Tex169
UniProt ID: (Human) Q9UBB4, (Rat) Q9ER24, (Mouse) P28658
Entrez Gene ID: (Human) 25814, (Rat) 170821, (Mouse) 54138