Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome

Nat Genet. 1995 May;10(1):13-9. doi: 10.1038/ng0595-13.


Ocular albinism type 1 (OA1) is an X-linked disorder characterized by severe impairment of visual acuity, retinal hypopigmentation and the presence of macromelanosomes. We isolated a novel transcript from the OA1 critical region in Xp22.3-22.2 which is expressed at high levels in RNA samples from retina, including the retinal pigment epithelium, and from melanoma. This gene encodes a protein of 424 amino acids displaying several putative transmembrane domains and sharing no similarities with previously identified molecules. Five intragenic deletions and a 2 bp insertion resulting in a premature stop codon were identified from DNA analysis of patients with OA1, indicating that we have identified the OA1 gene.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Albinism, Ocular / genetics*
  • Amino Acid Sequence
  • Base Sequence
  • Cloning, Molecular
  • Codon, Terminator
  • DNA, Complementary
  • Eye Proteins / genetics*
  • Female
  • Frameshift Mutation
  • Humans
  • Male
  • Melanoma / metabolism
  • Membrane Glycoproteins*
  • Membrane Proteins / genetics*
  • Molecular Sequence Data
  • RNA, Messenger / analysis
  • Restriction Mapping
  • Retina / metabolism
  • Sequence Deletion
  • X Chromosome*


  • Codon, Terminator
  • DNA, Complementary
  • Eye Proteins
  • GPR143 protein, human
  • Membrane Glycoproteins
  • Membrane Proteins
  • RNA, Messenger

Associated data

  • GENBANK/Z48804