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 |
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