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Gene id 222
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed    

Gene Summary

Gene Symbol ALDH3B2   Gene   UCSC   Ensembl
Aliases ALDH8
Gene name aldehyde dehydrogenase 3 family member B2
Alternate names aldehyde dehydrogenase family 3 member B2, acetaldehyde dehydrogenase 8, aldehyde dehydrogenase 8,
Gene location 11q13.2 (67681223: 67662161)     Exons: 12     NC_000011.10
Gene summary(Entrez) This gene encodes a member of the aldehyde dehydrogenase family, a group of isozymes that may play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. The gene of this particular family member is over 10
OMIM 601515

SNPs


rs2274911

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.116809541G>A
NC_000006.12   g.116809541G>C
NC_000006.11   g.117130704G>A
NC_000006.11   g.117130704G>C
NM_148963.3   c.271C>T
NM_148963.3   c.271C>G
NM_148963.4   c.271C>T
NM_148963.4   c.271C>G
NM_148963.2   c.271C>T
NM_148963.2   c.271C>G
XM_017010475  

Protein Summary

Gene ontology

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GO accessionTerm nameEvidence codeGo category

KEGG pathways

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Pathway idPathway name
hsa01100Metabolic pathways
hsa05204Chemical carcinogenesis
hsa00980Metabolism of xenobiotics by cytochrome P450
hsa00982Drug metabolism - cytochrome P450
hsa00010Glycolysis / Gluconeogenesis
hsa00350Tyrosine metabolism
hsa00410beta-Alanine metabolism
hsa00340Histidine metabolism
hsa00360Phenylalanine metabolism
Associated diseases References
Cryptorchidism MIK: 28606200

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
28606200 Cryptorchi
dism

Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
Male infertility MeDIP-Seq
Show abstract