POMGNT1

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POMGNT1
Identifiers
Aliases POMGNT1, GNTI.2, GnT I.2, LGMD2O, MEB, MGAT1.2, gnT-I.2, protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-), RP76
External IDs MGI: 1915523 HomoloGene: 9806 GeneCards: POMGNT1
RNA expression pattern
PBB GE POMGNT1 217944 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001243766
NM_001290129
NM_001290130
NM_017739

NM_001290658
NM_026651
NM_029786

RefSeq (protein)

NP_001230695
NP_001277058
NP_001277059
NP_060209

Location (UCSC) Chr 1: 46.19 – 46.22 Mb Chr 4: 116.12 – 116.16 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 is an enzyme that in humans is encoded by the POMGNT1 gene.[3][4]


Function[edit]

The product of the POMGNT1 gene, protein O-mannose beta-1,2-N-acetylglucosaminyltransferase, participates in O-mannosyl glycan synthesis. It is mutant in muscle-eye-brain disease (MIM 253280).[supplied by OMIM][4]

References[edit]

Notes[edit]

Further reading[edit]

External links[edit]