| Type | Description |
|---|---|
| Definition | aldehyde dehydrogenase 3 family member A2 |
| Date | Results | Publications |
|---|---|---|
| 2021-02-06 13:57:00 | Comprehensive in silico screening and molecular dynamics studies of missense mutations in Sjogren-Larsson syndrome associated with the ALDH3A2 gene. | 32085885 |
| 2020-03-14 12:11:00 | We have established a patient-centered database for pathogenic variants in the ALDH3A2 gene, which contains both, genotype information for individual patients as well as clinical data. | 30372562 |
| 2020-02-29 10:46:00 | Study from seven unrelated Egyptian pedigrees with Sjogren-Larsson syndrome revealed a novel pathogenic variant in the ALDH3A2 gene including one novel stop codon mutation; c.991G>T (p.E331X) and suggested a founder effect. | 31388754 |
| 2019-12-28 12:27:00 | Phenotypic and mutational spectrum of thirty-five patients with Sjogren-Larsson syndrome: identification of eleven novel ALDH3A2 mutations and founder effects. | 31273323 |
| 2019-05-04 10:50:00 | recruitment of the forkhead protein FOXH1 on open chromatin regions integrates the signals of Activin/Smad2 and Wnt/beta-catenin to activate the expression of the ME genes including HAS2 and ALDH3A2 Consistently, H3K27me3 decrease is enriched on open chromatin around regulatory regions | 30282636 |
| Type | IDs |
|---|---|
| Synonymous | ALDH10, FALDH, SLS |
| Gene |
UniProtKB-ID:
AL3A2_HUMAN
UniprotKB:
P51648
UniParc:
UPI000002A7E2,
UPI000012925F
EMBL:
U75289,
U75286,
AK292381,
U75290,
U75288,
L47162,
U75296,
U75295,
U75294,
U75292,
AK315096,
U46689,
BC002430,
U75293,
U75287,
CH471212,
CR457422,
U75291
Ensembl:
ENSG00000072210
KO:
hsa:224
|
| Nucleutide sequences |
EMBL-CDS:
AAH02430.1,
AAC50965.1,
AAC51121.1,
AAB01003.1,
EAW50898.1,
AAC50966.1,
BAG37560.1,
BAF85070.1,
CAG33703.1
Ensembl_TRS:
ENST00000579855,
ENST00000581518,
ENST00000339618,
ENST00000672357,
ENST00000176643
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000345774,
ENSP00000461916,
ENSP00000176643,
ENSP00000463637,
ENSP00000500092
RefSeq:
NP_001356068.1,
XP_024306419.1,
NP_001356066.1,
NP_001356067.1,
NP_001356077.1,
NP_001356075.1,
NP_001356065.1,
NP_000373.1,
NP_001026976.1
|
| Others |
UniRef100:
UniRef100_P51648
UniRef90:
UniRef90_P51648
UniRef50:
UniRef50_P51648
UniGene:
Hs.499886
CCDS:
CCDS32589.1,
CCDS11210.1
|
| {{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