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Gene : LRAT Homo sapiens

Name  ? lecithin retinol acyltransferase Cytological Location  4q32.1
Brief Description  lecithin retinol acyltransferase
Description  The protein encoded by this gene localizes to the endoplasmic reticulum, where it catalyzes the esterification of all-trans-retinol into all-trans-retinyl ester. This reaction is an important step in vitamin A metabolism in the visual system. Mutations in this gene have been associated with early-onset severe retinal dystrophy and Leber congenital amaurosis 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
  • synonyms:
  • AF071510,
  • phosphatidylcholine--retinol O-acyltransferase,
  • HGNC:6685,
  • uc063akh.1,
  • OTTHUMG00000161418,
  • LRAT,
  • lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase),
  • NM_004744,
  • LCA14,
  • LCA14
  • identifiers:
  • 9227,
  • ENSG00000121207,
  • LRAT

Genome feature

Region: gene ? Length: 12280  
Location: 4:154740841-154753120 Cyto location: 4q32.1

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2 Diseases

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216 SN Ps

5 Cross References

19 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results