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Open Access Articles- Top Results for ALDH16A1

ALDH16A1

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Identifiers
SymbolsALDH16A1 ; MGC10204
External IDsOMIM613358 MGI1916998 HomoloGene34938 GeneCards: ALDH16A1 Gene
Orthologs
SpeciesHumanMouse
Entrez12613369748
EnsemblENSG00000161618ENSMUSG00000007833
UniProtQ8IZ83Q571I9
RefSeq (mRNA)NM_001145396NM_145954
RefSeq (protein)NP_001138868NP_666066
Location (UCSC)Chr 19:
49.96 – 49.97 Mb
Chr 7:
45.14 – 45.15 Mb
PubMed search[1][2]

Aldehyde dehydrogenase 16 family, member A1 also known as ALDH16A1 is an aldehyde dehydrogenase gene.

Clinical significance

Mutations in the SPG21 (ACP33/maspardin) gene are associated with the mast syndrome, a type of spastic paraplegia. The protein encoded by the SPG21 gene has been shown to interact with the ALDH16A1 enzyme.[1]

References

  1. ^ Hanna MC, Blackstone C (January 2009). "Interaction of the SPG21 protein ACP33/maspardin with the aldehyde dehydrogenase ALDH16A1". Neurogenetics 10 (3): 217–28. PMID 19184135. doi:10.1007/s10048-009-0172-6. 

Further reading

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