ALDH1A3 gene

aldehyde dehydrogenase 1 family member A3

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Jun 2014]

From UniProt:

Recognizes as substrates free retinal and cellular retinol-binding protein-bound retinal. Seems to be the key enzyme in the formation of an RA gradient along the dorso-ventral axis during the early eye development and also in the development of the olfactory system.

From NCBI Gene:

  • Microphthalmia, isolated 8

From UniProt:

Microphthalmia, isolated, 8 (MCOP8): A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. [MIM:615113]

Cytogenetic Location: 15q26.3, which is the long (q) arm of chromosome 15 at position 26.3

Molecular Location: base pairs 100,879,692 to 100,916,626 on chromosome 15 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 15q26.3, which is the long (q) arm of chromosome 15 at position 26.3
  • ALDH1A6
  • ALDH6
  • MCOP8
  • RALDH3