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Browse result for Spinocerebellar ataxia
※ introduction Spinocerebellar ataxia (SCA) is a progressive, degenerative, genetic disease with multiple types, each of which could be considered a neurological condition in its own right. An estimated 150,000 people in the United States have a diagnosis of spinocerebellar ataxia at any given time. SCA is hereditary, progressive, degenerative, and often fatal. There is no known effective treatment or cure. SCA can affect anyone of any age. The disease is caused by either a recessive or dominant gene. In many cases people are not aware that they carry a relevant gene until they have children who begin to show signs of having the disorder.
Reference
Wiki: Spinocerebellar ataxia
Reference
Wiki: Spinocerebellar ataxia
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD00248 | P05129 | 5582 | PRKCG | Protein kinase C gamma type | Homo sapiens |
| PTMD00054 | P13639 | 1938 | EEF2 | Elongation factor 2 | Homo sapiens |
| PTMD00797 | Q9H1Y0 | 9474 | ATG5 | Autophagy protein 5 | Homo sapiens |
| PTMD00936 | Q9UNE7 | 10273 | STUB1 | E3 ubiquitin-protein ligase CHIP | Homo sapiens |
| PTMD01914 | Q9NZC7 | 51741 | WWOX | WW domain-containing oxidoreductase | Homo sapiens |
| PTMD01106 | P54253 | 6310 | ATXN1 | Ataxin-1 | Homo sapiens |
| PTMD02332 | O00555 | 773 | CACNA1A | Voltage-dependent P/Q-type calcium channel subunit alpha-1A | Homo sapiens |
| PTMD02482 | O15020 | 6712 | SPTBN2 | Spectrin beta chain, non-erythrocytic 2 | Homo sapiens |
| PTMD03549 | O95932 | 34364 | TGM6 | Protein-glutamine gamma-glutamyltransferase 6 | Homo sapiens |
| PTMD04374 | P18887 | 7515 | XRCC1 | DNA repair protein XRCC1 | Homo sapiens |
| PTMD04765 | P30048 | 10935 | PRDX3 | Thioredoxin-dependent peroxide reductase, mitochondrial | Homo sapiens |
| PTMD06359 | Q10713 | 23203 | PMPCA | Mitochondrial-processing peptidase subunit alpha | Homo sapiens |
| PTMD06708 | Q14204 | 1778 | DYNC1H1 | Cytoplasmic dynein 1 heavy chain 1 | Homo sapiens |
| PTMD06788 | Q14671 | 9698 | PUM1 | Pumilio homolog 1 | Homo sapiens |
| PTMD07038 | Q15818 | 4884 | NPTX1 | Neuronal pentraxin-1 | Homo sapiens |
| PTMD07684 | Q5SV17 | 33945 | TMEM240 | Transmembrane protein 240 | Homo sapiens |
| PTMD07831 | Q5THJ4 | 55187 | VPS13D | Intermembrane lipid transfer protein VPS13D | Homo sapiens |
| PTMD08125 | Q6IQ55 | 14605 | TTBK2 | Tau-tubulin kinase 2 | Homo sapiens |
| PTMD08777 | Q7Z333 | 23064 | SETX | Probable helicase senataxin | Homo sapiens |
| PTMD09250 | Q8IV08 | 23646 | PLD3 | 5'-3' exonuclease PLD3 | Homo sapiens |
| PTMD10087 | Q8NF91 | 23345 | SYNE1 | Nesprin-1 | Homo sapiens |
| PTMD11040 | Q96BR5 | 65260 | COA7 | Cytochrome c oxidase assembly factor 7 | Homo sapiens |
| PTMD13516 | Q9NUW8 | 55775 | TDP1 | Tyrosyl-DNA phosphodiesterase 1 | Homo sapiens |
| PTMD14866 | Q9Y4W6 | 10939 | AFG3L2 | Mitochondrial inner membrane m-AAA protease component AFG3L2 | Homo sapiens |
