The ALDH5A1 gene homepage

General information
Gene symbol ALDH5A1
Gene name aldehyde dehydrogenase 5 family, member A1
Chromosome 6
Chromosomal band p22
Imprinted Unknown
Genomic reference NG_008161.1
Transcript reference NM_001080.3, NM_170740.1
Exon/intron information NM_170740.1 exon/intron table
Associated with diseases ID, SSADHD
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Gajja Salomons and Eric Wever
Total number of public variants reported 533
Unique public DNA variants reported 120
Individuals with public variants 373
Hidden variants 385
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 07, 2009
Date last updated September 17, 2021
Version ALDH5A1:210917

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_170740.1.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/ALDH5A1
HGNC 408
Entrez Gene 7915
PubMed articles ALDH5A1
OMIM - Gene 610045
OMIM - Diseases SSADHD (deficiency, succinate-semialdehyde dehydrogenase (SSADHD))
HGMD ALDH5A1
GeneCards ALDH5A1
GeneTests ALDH5A1
Orphanet ALDH5A1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000139 6 aldehyde dehydrogenase 5 family, member A1, transcript variant 1 NM_001080.3 NP_733936.1 532
00024199 6 transcript variant 1 NM_170740.1 NP_733936.1 509


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