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 |