Evidence Details for ALDH5A1
Basic Information Top
| Gene Symbol: | ALDH5A1 ( SSADH,SSDH ) |
|---|---|
| Gene Full Name: | aldehyde dehydrogenase 5 family, member A1 |
| Band: | 6p22.3 |
| Quick Links | Entrez ID:7915; OMIM: 610045; Uniprot ID:SSDH_HUMAN; ENSEMBL ID: ENSG00000112294; HGNC ID: 408 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>ALDH5A1|7915|nucleotide
ATGGCGACCTGCATTTGGCTGCGGAGCTGTGGGGCCCGGCGCCTCGGGTCGACGTTTCCAGGCTGCCGCCTCCGCCCCCGCGCCGGCGGCCTGGTCCCTGCCTCC
GGGCCTGCGCCCGGCCCGGCCCAGCTCCGCTGCTACGCTGGGCGCCTGGCGGGCCTCTCTGCGGCGCTGCTGCGCACCGACAGCTTCGTGGGCGGCCGCTGGCTC
CCGGCCGCCGCCACCTTCCCCGTGCAAGACCCGGCCAGCGGCGCCGCTCTGGGCATGGTAGCCGACTGCGGGGTGCGAGAGGCCCGCGCCGCCGTGCGCGCTGCC
TACGAGGCTTTCTGCCGCTGGAGGGAGGTCTCCGCCAAGGAGAGGAGTTCATTACTTCGGAAGTGGTACAATTTAATGATACAAAATAAGGATGACCTTGCCAGA
ATAATCACAGCTGAAAGTGGAAAGCCACTGAAGGAGGCACATGGAGAAATTCTCTATTCCGCCTTTTTCCTAGAGTGGTTCTCTGAGGAAGCCCGCCGTGTTTAC
GGAGACATTATCCACACCCCGGCAAAGGACAGGCGGGCCCTGGTCCTCAAGCAGCCCATAGGCGTGGCTGCAGTCATCACCCCGTGGAATTTCCCCAGTGCCATG
ATCACCCGGAAGGTGGGGGCCGCCCTGGCAGCCGGCTGTACTGTCGTGGTGAAGCCTGCCGAAGACACGCCCTTCTCCGCCCTGGCCCTGGCTGAGCTTGCAAGC
CAGGCTGGGATTCCTTCAGGTGTATACAATGTTATTCCCTGTTCTCGAAAGAATGCCAAGGAAGTAGGGGAGGCAATTTGTACTGATCCTCTGGTGTCCAAAATT
TCCTTTACTGGTTCAACAACTACAGGAAAGATCCTGTTGCACCACGCAGCAAACTCTGTGAAAAGGGTCTCTATGGAGCTGGGCGGCCTTGCTCCATTTATAGTA
TTTGACAGTGCCAACGTGGACCAGGCTGTAGCAGGGGCCATGGCATCTAAATTTAGGAACACTGGACAGACTTGTGTTTGCTCAAACCAATTCTTGGTGCAAAGG
GGCATCCATGATGCCTTTGTAAAAGCATTCGCCGAGGCCATGAAGAAGAACCTGCGCGTAGGTAATGGATTTGAGGAAGGAACTACTCAGGGCCCATTAATTAAT
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ATGGCGACCTGCATTTGGCTGCGGAGCTGTGGGGCCCGGCGCCTCGGGTCGACGTTTCCAGGCTGCCGCCTCCGCCCCCGCGCCGGCGGCCTGGTCCCTGCCTCC
GGGCCTGCGCCCGGCCCGGCCCAGCTCCGCTGCTACGCTGGGCGCCTGGCGGGCCTCTCTGCGGCGCTGCTGCGCACCGACAGCTTCGTGGGCGGCCGCTGGCTC
CCGGCCGCCGCCACCTTCCCCGTGCAAGACCCGGCCAGCGGCGCCGCTCTGGGCATGGTAGCCGACTGCGGGGTGCGAGAGGCCCGCGCCGCCGTGCGCGCTGCC
TACGAGGCTTTCTGCCGCTGGAGGGAGGTCTCCGCCAAGGAGAGGAGTTCATTACTTCGGAAGTGGTACAATTTAATGATACAAAATAAGGATGACCTTGCCAGA
ATAATCACAGCTGAAAGTGGAAAGCCACTGAAGGAGGCACATGGAGAAATTCTCTATTCCGCCTTTTTCCTAGAGTGGTTCTCTGAGGAAGCCCGCCGTGTTTAC
GGAGACATTATCCACACCCCGGCAAAGGACAGGCGGGCCCTGGTCCTCAAGCAGCCCATAGGCGTGGCTGCAGTCATCACCCCGTGGAATTTCCCCAGTGCCATG
ATCACCCGGAAGGTGGGGGCCGCCCTGGCAGCCGGCTGTACTGTCGTGGTGAAGCCTGCCGAAGACACGCCCTTCTCCGCCCTGGCCCTGGCTGAGCTTGCAAGC
CAGGCTGGGATTCCTTCAGGTGTATACAATGTTATTCCCTGTTCTCGAAAGAATGCCAAGGAAGTAGGGGAGGCAATTTGTACTGATCCTCTGGTGTCCAAAATT
TCCTTTACTGGTTCAACAACTACAGGAAAGATCCTGTTGCACCACGCAGCAAACTCTGTGAAAAGGGTCTCTATGGAGCTGGGCGGCCTTGCTCCATTTATAGTA
TTTGACAGTGCCAACGTGGACCAGGCTGTAGCAGGGGCCATGGCATCTAAATTTAGGAACACTGGACAGACTTGTGTTTGCTCAAACCAATTCTTGGTGCAAAGG
GGCATCCATGATGCCTTTGTAAAAGCATTCGCCGAGGCCATGAAGAAGAACCTGCGCGTAGGTAATGGATTTGAGGAAGGAACTACTCAGGGCCCATTAATTAAT
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>ALDH5A1|7915|protein
MATCIWLRSCGARRLGSTFPGCRLRPRAGGLVPASGPAPGPAQLRCYAGRLAGLSAALLRTDSFVGGRWLPAAATFPVQDPASGAALGMVADCGVREARAAVRAA
YEAFCRWREVSAKERSSLLRKWYNLMIQNKDDLARIITAESGKPLKEAHGEILYSAFFLEWFSEEARRVYGDIIHTPAKDRRALVLKQPIGVAAVITPWNFPSAM
ITRKVGAALAAGCTVVVKPAEDTPFSALALAELASQAGIPSGVYNVIPCSRKNAKEVGEAICTDPLVSKISFTGSTTTGKILLHHAANSVKRVSMELGGLAPFIV
FDSANVDQAVAGAMASKFRNTGQTCVCSNQFLVQRGIHDAFVKAFAEAMKKNLRVGNGFEEGTTQGPLINEKAVEKVEKQVNDAVSKGATVVTGGKRHQLGKNFF
EPTLLCNVTQDMLCTHEETFGPLAPVIKFDTEEEAIAIANAADVGLAGYFYSQDPAQIWRVAEQLEVGMVGVNEGLISSVECPFGGVKQSGLGREGSKYGIDEYL
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MATCIWLRSCGARRLGSTFPGCRLRPRAGGLVPASGPAPGPAQLRCYAGRLAGLSAALLRTDSFVGGRWLPAAATFPVQDPASGAALGMVADCGVREARAAVRAA
YEAFCRWREVSAKERSSLLRKWYNLMIQNKDDLARIITAESGKPLKEAHGEILYSAFFLEWFSEEARRVYGDIIHTPAKDRRALVLKQPIGVAAVITPWNFPSAM
ITRKVGAALAAGCTVVVKPAEDTPFSALALAELASQAGIPSGVYNVIPCSRKNAKEVGEAICTDPLVSKISFTGSTTTGKILLHHAANSVKRVSMELGGLAPFIV
FDSANVDQAVAGAMASKFRNTGQTCVCSNQFLVQRGIHDAFVKAFAEAMKKNLRVGNGFEEGTTQGPLINEKAVEKVEKQVNDAVSKGATVVTGGKRHQLGKNFF
EPTLLCNVTQDMLCTHEETFGPLAPVIKFDTEEEAIAIANAADVGLAGYFYSQDPAQIWRVAEQLEVGMVGVNEGLISSVECPFGGVKQSGLGREGSKYGIDEYL
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Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| Evidences | Syndromic Gene | GWAS | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Score (No. of Studies) | Yes | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (1) | 1 (1) | 0 (0) | 0 (0) | 3 (3) |
Syndromic Autism Gene TopAbbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
| Inheritance | AR |
|---|---|
| OMIM | Succinic semialdehyde dehydrogenase deficiency (271980) |
| Description | Succinic semialdehyde dehydrogenase deficiency (gamma-hydroxybutyric aciduria); 12% (4/33) have autistic features |
| Reference(s) | 18622364; 12743223; |
| Level | Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder. |
Genome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Guerini, 2010 | Italy | microsatellite-based genomic screen, SNP-based genomic screen |  | | ASD | 61 | 61 | - | - | 61 | 149 | 210 |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
NGS Mosaic SNV Studies Top| Reference | Case Number | Family Number | Mosaic Number | Title |
|---|---|---|---|---|
| Dou Y, 2017 | - | 2361 | 230 | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and |
NGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.