| Type | Description |
|---|---|
| Definition | hexosaminidase subunit alpha |
| Date | Results | Publications |
|---|---|---|
| 2021-01-16 15:57:00 | Novel bicistronic lentiviral vectors correct beta-Hexosaminidase deficiency in neural and hematopoietic stem cells and progeny: implications for in vivo and ex vivo gene therapy of GM2 gangliosidosis. | 31682993 |
| 2020-05-16 11:55:00 | The study characterized 34 enzymatically confirmed Tay-Sachs disease (TSD) families to investigate the presence of novel as well as known variants in HEXA gene. There were detected 25 variants belonging to 31 affected TSD patients and 3 carrier couples confirmed by enzyme study. | 31388111 |
| 2019-04-20 10:29:00 | Use of MLPA assay for detecting large copy number changes in the HEXA gene. | 29973161 |
| 2018-09-22 10:54:00 | Reported data present, for the first time, reference values for urinary activities of HEX and its isoenzymes HEX A and HEX B in children and adolescent. | 28846871 |
| 2017-09-09 11:28:00 | The alpha mutants E482K and G269S are defective in enzymatic activity, unprocessed by lysosomal proteases, and exhibit altered folding pathways compared with wild-type alpha. E482K is more severely misfolded than G269S, as observed by its aggregation and inability to associate with the HexA beta chain. Importantly, both mutants are retrotranslocated from the endoplasmic reticulum to the cytosol and are degraded by the ... | 27682588 |
| Type | IDs |
|---|---|
| Synonymous | TSD |
| Gene |
UniProtKB-ID:
HEXA_HUMAN,
A0A0S2Z3W3_HUMAN,
H3BP20_HUMAN,
B4DVA7_HUMAN
UniprotKB:
P06865,
A0A0S2Z3W3,
H3BP20,
B4DVA7
UniParc:
UPI000013D798,
UPI00017A7E91,
UPI00017A766F,
UPI0001AE6929
EMBL:
AC009690,
S62049,
CR627386,
S62055,
BC018927,
M13520,
AK222502,
S62076,
S62053,
M16412,
M16424,
M16418,
M16416,
AK301000,
S62066,
S62068,
S62063,
M16419,
S62051,
M16417,
S62047,
S62061,
M16413,
M16420,
M16423,
BC084537,
M16421,
S62072,
S62070,
AK296528,
M16411,
S62059,
M16415,
KF456090,
M16422,
S62057,
M16414,
KU178109
Ensembl:
ENSG00000213614
KO:
hsa:3073
|
| Nucleutide sequences |
EMBL-CDS:
BAG59159.1,
AAA51827.1,
AAH84537.1,
CAH10482.1,
AAB00965.1,
BAD96222.1,
AAD13932.1,
AAH18927.1,
ALQ33567.1,
BAG62619.1
Ensembl_TRS:
ENST00000268097,
ENST00000566304
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000268097,
ENSP00000455114
RefSeq:
NP_000511.2,
NP_001305754.1
|
| Others |
UniRef100:
UniRef100_P06865,
UniRef100_H3BP20,
UniRef100_B4DVA7
UniRef90:
UniRef90_H0WW55,
UniRef90_P06865
UniRef50:
UniRef50_P06865
UniGene:
Hs.604479,
Hs.709495
CCDS:
CCDS10243.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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