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Article

Variant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular features.

Glycobiology - 1 May 2018

Takeuchi Hideyuki, Wong Derek, Schneider Michael, Freeze Hudson H, Takeuchi Megumi, Berardinelli Steven J, Ito Atsuko, Lee Hane, Nelson Stanley F, Haltiwanger Robert S

Abstract excerpt

Protein O-fucosyltransferase-1 (POFUT1) adds O-fucose monosaccharides to epidermal growth factor-like (EGF) repeats found on approximately 100 mammalian proteins, including Notch receptors. Haploinsufficiency of POFUT1 has been linked to adult-onset Dowling Degos Disease (DDD) with hyperpigmentation defects. Homozygous deletion of mouse Pofut1 results in embryonic lethality with severe Notch-like phenotypes...

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Identifiers

PMID: 29452367
DOI: 10.1093/glycob/cwy014
PMCID: PMC6057529

Genes

POFUT1
EGF

Variants

Provenance

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Related research

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Variant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular features.PMID 29452367Read ↗

Mutations in POFUT1, Encoding Protein O-fucosyltransferase 1, Cause Generalized Dowling-Degos DiseaseSemantic proximity Read ↗

Structure of human POFUT1, its requirement in ligand-independent oncogenic Notch signaling, and functional effects of Dowling-Degos mutations.Semantic proximity Read ↗

Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation.Semantic proximity Read ↗

Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease.Semantic proximity Read ↗

Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.Semantic proximity Read ↗

Marfan syndrome variation of the POGLUT2 and POGLUT3 consensus sequence can produce aberrant fibrillin-1 O-glucosylationSemantic proximity Read ↗

O-fucosylation of the notch ligand mDLL1 by POFUT1 is dispensable for ligand function.Semantic proximity Read ↗

Genetic Diseases of Fucosylation: Insights from Model OrganismsSemantic proximity Read ↗

Analysis of POFUT1 gene mutation in a Chinese family with Dowling-Degos disease.Semantic proximity Read ↗

ADAMTS9 and ADAMTS20 are differentially affected by loss of B3GLCT in mouse model of Peters plus syndromeSemantic proximity Read ↗

Identification of a novel homozygous loss-of-function mutation in FUCA1 gene causing severe fucosidosis: A case report.Semantic proximity Read ↗

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