| Type | Description |
|---|---|
| Definition | aldehyde dehydrogenase 5 family member A1 |
| Date | Results | Publications |
|---|---|---|
| 2021-04-03 13:29:00 | Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency. | 32402538 |
| 2021-03-06 13:29:00 | Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1. | 33203024 |
| 2021-02-13 13:25:00 | SSADH Variants Increase Susceptibility of U87 Cells to Mitochondrial Pro-Oxidant Insult. | 32575506 |
| 2020-12-05 13:01:00 | Novel ALDH5A1 variants and genotype: Phenotype correlation in SSADH deficiency. | 32887777 |
| 2019-10-05 12:43:00 | Four Chinese patients (two males and two females) at the age of 86 days to 5 years were diagnosed with succinic semialdehyde dehydrogenase deficiency (SSADH deficiency) with aldehyde dehydrogenase family 5 member A1 (ALDH5A1) gene mutations. | 31117962 |
| Type | IDs |
|---|---|
| Synonymous | SSADH, SSDH |
| Gene |
UniProtKB-ID:
SSDH_HUMAN,
X5D299_HUMAN,
X5DQN2_HUMAN
UniprotKB:
P51649,
X5D299,
X5DQN2
UniParc:
UPI00001619D2,
UPI0000001644
EMBL:
L34820,
KJ534769,
CH471087,
KJ534767,
AJ427355,
AJ427354,
AL031230,
BC034321,
Y11192,
AK315380
Ensembl:
ENSG00000112294
KO:
hsa:7915
|
| Nucleutide sequences |
EMBL-CDS:
AAH34321.1,
CAD20883.2,
CAA72076.1,
EAW55452.1,
CAD20884.1,
BAG37773.1,
EAW55453.1,
AAA67057.1,
AHW56409.1,
EAW55454.1,
AHW56407.1
Gene_ORFName:
hCG_37509
Ensembl_TRS:
ENST00000357578,
ENST00000348925
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000314649,
ENSP00000350191
RefSeq:
NP_001355883.1,
NP_733936.1,
NP_001071.1
|
| Others |
UniRef100:
UniRef100_P51649,
UniRef100_P51649-2
UniRef90:
UniRef90_P51649
UniRef50:
UniRef50_P51649
UniGene:
Hs.371723
CCDS:
CCDS4556.1,
CCDS4555.1
|
| {{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