| Type | Description |
|---|---|
| Definition | hexosaminidase subunit beta |
| 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 |
| 2020-12-05 13:04:00 | Clinical and Molecular Characteristics of Two Chinese Children with Infantile Sandhoff Disease and Review of the Literature. | 31919734 |
| 2020-02-15 13:01:00 | identified a homozygous splice site variant (NM_000521:c.445 + 1G > T) in the hexosaminidase B (HEXB) gene confirming a diagnosis of Sandhoff disease (SD; type II GM2-gangliosidosis), an autosomal recessive lysosomal storage disorder caused by deficiency of hexosaminidases in a single family | 31852446 |
| 2019-07-13 12:21:00 | Direct sequencing of HEXA and HEXB genes showed recurrent homozygous variants at c.509G>A (p.Arg170Gln) and c.850C>T (p.Arg284Ter) in gangliosidosis, respectively | 29448188 |
| 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 |
| Type | IDs |
|---|---|
| Synonymous | ENC-1AS, HEL-248, HEL-S-111 |
| Gene |
UniProtKB-ID:
HEXB_HUMAN,
Q5URX0_HUMAN,
A0A024RAJ6_HUMAN
UniprotKB:
P07686,
Q5URX0,
A0A024RAJ6
UniParc:
UPI0000000E0A,
UPI0000458BEC
EMBL:
M23293,
GQ472222,
M13519,
AC026405,
M23292,
M23291,
M23287,
AY643499,
M23288,
AF378118,
KC877004,
GQ891410,
M23285,
CH471084,
M23283,
BT009919,
BC017378,
M23284,
M23282,
FJ224336,
M23294,
M19735,
M23286,
AC093214,
M23290,
M34906
Ensembl:
ENSG00000049860
KO:
hsa:3074
|
| Nucleutide sequences |
EMBL-CDS:
AAA51828.1,
AAM46114.1,
AAA68620.1,
AAA51829.1,
AAA52645.1,
AAP88921.1,
AAH17378.1,
AAV48875.1,
ACV87197.1,
ACI46028.1,
EAW95741.1,
ADO22272.1,
EAW95742.1
Gene_ORFName:
HCC7,
hCG_38198
Ensembl_TRS:
ENST00000261416,
ENST00000511181
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000261416,
ENSP00000426285
RefSeq:
NP_001278933.1,
NP_000512.2
|
| Others |
UniRef100:
UniRef100_P07686
UniRef90:
UniRef90_P07686
UniRef50:
UniRef50_P07686
UniGene:
Hs.69293
CCDS:
CCDS4022.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
{{protein.nucleotideVersion}}
Ensembl: {{protein.nucleotideEnsembl}} |
{{protein.proteinVersion}}
Ensembl: {{protein.proteinEnsembl}} |
{{uniprot}} , |
Definition: {{{protein.definition}}}Transcript Veriant:{{protein.transcriptVeriant}} Status: {{protein.status}} |
||||
| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
||||
暂无数据
| 排名 | 科研单位 | 文献 |
|---|---|---|
| {{affIndex+1}} |
{{aff.value}} |
{{aff.size}} |
目前还没有研究热点单位
| 排名 | 研究人员 | 文献 |
|---|---|---|
| {{authorIndex+1}} |
{{author.value}} |
{{author.size}} |
目前还没有研究热点人员