| Type | Description |
|---|---|
| Definition | ataxin 10 |
| Date | Results | Publications |
|---|---|---|
| 2020-03-07 10:13:00 | The most common clinical presentation of SCA10 in Brazilian families was pure cerebellar ataxia. | 31377949 |
| 2020-03-07 10:10:00 | ATXN10 allele distribution in a healthy Amerindian population from Peru does not differ from that of other populations. | 31342269 |
| 2019-03-02 10:53:00 | Ataxin-10 is involved in Golgi membrane dynamics | 29169923 |
| 2018-07-21 11:23:00 | The 19-CGGC-14 shared haplotype was found in 47% of Brazilian and in 63% of Peruvian families. Frequencies from both are statistically different from Brazilian controls but not Quechua controls. The most frequent haplotype in Quechuas, 19-15-CGGC-14-10, is found in 50% of Brazilian and in 65% of Peruvian patients. The ATTCT expansion may have arisen in a Native American chromosome. | 28905220 |
| 2017-10-07 10:05:00 | Polymorphism in ATXN10 gene is associated with spinocerebellar ataxia type 10. | 28542277 |
| Type | IDs |
|---|---|
| Synonymous | E46L, HUMEEP, SCA10 |
| Gene |
UniProtKB-ID:
ATX10_HUMAN
UniprotKB:
Q9UBB4
UniParc:
UPI00017A7083,
UPI0000052A56
EMBL:
AF119662,
AK294348,
CR456568,
AL050282,
BC007508,
CR457381,
Z84478,
Z93784,
Z95331
Ensembl:
ENSG00000130638
KO:
hsa:25814
|
| Nucleutide sequences |
EMBL-CDS:
CAB43383.1,
AAH07508.1,
BAG57616.1,
AAF17219.1,
CAG33662.1,
CAG30454.1
Ensembl_TRS:
ENST00000381061,
ENST00000252934
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000370449,
ENSP00000252934
RefSeq:
NP_037368.1,
NP_001161093.1
|
| Others |
UniRef100:
UniRef100_Q9UBB4
UniRef90:
UniRef90_Q9UBB4
UniRef50:
UniRef50_Q9UBB4
UniGene:
Hs.475125
CCDS:
CCDS14070.1,
CCDS54540.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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