ALDH16A1

Aldehyde dehydrogenase 16 family, member A1
Identifiers
Symbols ALDH16A1; MGC10204
External IDs OMIM613358 MGI1916998 HomoloGene34938 GeneCards: ALDH16A1 Gene
Orthologs
Species Human Mouse
Entrez 126133 69748
Ensembl ENSG00000161618 ENSMUSG00000007833
UniProt Q8IZ83 Q571I9
RefSeq (mRNA) NM_001145396.1 NM_145954.1
RefSeq (protein) NP_001138868.1 NP_666066.1
Location (UCSC) Chr 19:
49.96 – 49.97 Mb
Chr 7:
52.4 – 52.41 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. doi:10.1007/s10048-009-0172-6. PMID 19184135. 

Further reading