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

ALDH16A1
Identifiers
AliasesALDH16A1, aldehyde dehydrogenase 16 family member A1
External IDsMGI: 1916998 HomoloGene: 34938 GeneCards: ALDH16A1
Gene location (Human)
Chromosome 19 (human)
Chr.Chromosome 19 (human)[1]
Chromosome 19 (human)
Genomic location for ALDH16A1
Genomic location for ALDH16A1
Band19q13.33Start49,453,225 bp[1]
End49,471,050 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001145396
NM_153329

NM_145954

RefSeq (protein)

NP_001138868
NP_699160

NP_666066

Location (UCSC)Chr 19: 49.45 – 49.47 MbChr 7: 45.14 – 45.15 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Contents

Clinical significanceEdit

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.[5]

ReferencesEdit

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000161618 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000007833 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ 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. PMC 5585778. PMID 19184135.

External linksEdit

Further readingEdit