LFNG O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase

Alternative Names

  • LFNG
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OMIM Number

602576

NCBI Gene ID

3955

Uniprot ID

Q8NES3

Length

16649

No. of Exons

13

No. of isoforms

4

Protein Name

Beta-1,3-N-acetylglucosaminyltransferase lunatic fringe

Molecular Mass

41773

Amino Acid Count

379

Genomic Location

chr7:2,512,529-2,529,177

Gene Map Locus
7p22.3

Description

LFNG encodes a glycotransferase essential in Notch signaling, a pathway critical to embyonic development. The protein is thought to exist as a type-2 one-way golgi membrane protein. Variants in LFNG are assoicated with autosomal recessive spondylocostal dysostosis 3. 

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001040167.2:c.564C>ALebanon7:2525301PathogenicPathogenicSpondylocostal Dysostosis 3, Autosomal Recessive NG_008109.2:g.17773C>A ; NM_001040167.2:c.564C>A ; NP_001035257.1:p.Phe188Leu1048940246999
NM_001040167.2:c.761C>TSaudi ArabiaNC_000007.14:g.2525710C>TUncertain SignificanceLikely PathogenicSpondylocostal Dysostosis 3, Autosomal Recessive NG_008109.2:g.18182C>T; NM_001040167.2:c.761C>T; NP_001035257.1:p.Thr254Met1252056
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