Details for Gene GALNT14

GENE NAME GALNT14
CHROMOSOME 2
ENSEMBL ID None
ENTREZ ID ENSG00000158089
UNIPROT ACCESSION NUMBER Q96FL9
GO MOLECULAR FUNCTION ['metal ion binding', 'polypeptide N-acetylgalactosaminyltransferase activity', 'carbohydrate binding']
ESSENTIAL IN MOUSE None
PATHWAYS hsa00512; hsa00514; hsa01100; R-HSA-392499; R-HSA-5173105; R-HSA-597592; R-HSA-913709
1 combination linked to GALNT14 OLI1692
1 variant linked to GALNT14 GALNT14:c.472G>A, p.Asp158Asn
1 disease linked to GALNT14 Non-Syndromic genetic keratoconus

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