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GLT8D1

Chr 3p21.1

glycosyltransferase 8 domain containing 1

Aliases:
AD-017, FLJ14611
MANE:
ENST00000266014.11
OMIM: 618399 ↗NCBI: 55830 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Adult onset neurodegenerative disorder

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • frontotemporal dementia

    0.26

  • familial amyotrophic lateral sclerosis

    0.19

  • amyotrophic lateral sclerosis

    0.17

  • osteoarthritis, hip

    0.13

  • osteoarthritis, knee

    0.11

  • gastric cancer

    0.09

  • glioblastoma

    0.08

  • Inguinal hernia

    0.07

  • osteoarthritis

    0.07

  • schizophrenia

    0.06

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Glycosyltransferase 8 domain-containing protein 1

In vitro, catalyzes the transfer of a galactose residue from UDP-galactose onto GalNAc and GlcNAc structures

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.