Lecithin Retinol Acyltransferase

Alternative Names

  • LRAT
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OMIM Number

604863

NCBI Gene ID

9227

Uniprot ID

O95237

Length

126,176 bases

No. of Exons

4

No. of isoforms

1

Protein Name

Lecithin Retinol Acyltransferase

Molecular Mass

25703 Da

Amino Acid Count

230

Genomic Location

chr4:154,740,840-154,753,119

Gene Map Locus
4q32.1

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. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_004744.5:c.233_242delSaudi Arabiachr4:154744559-154744568PathogenicPathogenicLeber Congenital Amaurosis 14NG_009110.1:g.5549_5558del; NM_004744.5:c.233_242del; NP_001288574.1:p.Leu78fs786205644191324
NM_004744.5:c.241_242delSaudi ArabiaNC_000004.12:g.154744567_154744568delPathogenicPathogenicLeber Congenital Amaurosis 14NG_009110.1:g.5557_5558del; NM_004744.5:c.241_242del; NP_001288574.1:p.Leu81fs978974
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