Aldehyde Dehydrogenase 1 Family, Member A3

Alternative Names

  • ALDH1A3
  • Aldehyde Dehydrogenase 6
  • ALDH6
  • Acetaldehyde Dehydrogenase 6
  • Retinaldehyde Dehydrogenase 3
  • RALDH3

Associated Diseases

Microphthalmia, Isolated 8
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OMIM Number

600463

NCBI Gene ID

220

Uniprot ID

P47895

Length

36,796 bases

No. of Exons

13

No. of isoforms

1

Protein Name

Aldehyde dehydrogenase family 1 member A3

Molecular Mass

56108 Da

Amino Acid Count

512

Genomic Location

chr15:100,879,830-100,916,625

Gene Map Locus
15q26.3

Description

This gene encodes an aldehyde dehydrogenase enzyme that uses retinal as a substrate. Mutations in this gene have been associated with microphthalmia, isolated 8, and expression changes have also been detected in tumor cells. Alternative splicing results in multiple transcript variants. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000693.4:c.1105A>TEgypt; Saudi ArabiaNC_000015.10:g.100905559A>TLikely PathogenicMicrophthalmia, Isolated 8NG_012254.1:g.30756A>T; NM_000693.4:c.1105A>T; NP_000684.2:p.Ile369Phe
NM_000693.4:c.434C>TSaudi ArabiaNC_000015.10:g.100892598C>TLikely PathogenicLikely PathogenicMicrophthalmia, Isolated 8NG_012254.1:g.17795C>T; NM_000693.4:c.434C>T; NP_000684.2:p.Ala145Val1802996
NM_000693.4:c.845G>CUnited Arab EmiratesNC_000015.10:g.100898147G>CLikely PathogenicMicrophthalmia, Isolated 8NG_012254.1:g.23344G>C; NM_000693.4:c.845G>C; NP_000684.2:p.Gly282Ala547918064
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