Protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
P688
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1Cloning and expression of a novel UDP-GlcNAc:alpha-D-mannoside beta1,2-N-acetylglucosaminyltransferase homologous to UDP-GlcNAc:alpha-3-D-mannoside beta1,2-N-acetylglucosaminyltransferase IMutations in POMGNT1 cause non-syndromic retinitis pigmentosaHomozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis PigmentosaCarbohydrate-binding domain of the POMGnT1 stem region modulates O-mannosylation sites of α-dystroglycanMolecular interaction between fukutin and POMGnT1 in the glycosylation pathway of alpha-dystroglycan.
P921
Protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
description
humanes Protein
@de
mammalian protein found in Homo sapiens
@en
menselijk eiwit
@nl
protein
@id
proteinë
@sq
protèin
@ace
protéine humaine
@fr
بروتين بشري
@ar
name
POMGNT1
@uk
Protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
@en
Protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
@nl
Protein O-mannose beta-1,2-N-acetylglucosaminyltransferase 1
@de
type
label
POMGNT1
@uk
Protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
@en
Protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
@nl
Protein O-mannose beta-1,2-N-acetylglucosaminyltransferase 1
@de
altLabel
GnT I.2
@en
POMGNT1
@en
UDP-GlcNAc:alpha-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I.2
@en
protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1
@en
prefLabel
POMGNT1
@uk
Protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
@en
Protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
@nl
Protein O-mannose beta-1,2-N-acetylglucosaminyltransferase 1
@de
P637
P680
P681
P682
P705
P352
P637
P31
P352
P637
NP_001230695
NP_001277058
NP_001277059
XP_005271067
XP_006710818
XP_006710819
XP_011540062
XP_016857179
P680
P681
P702
P703
P705
ENSP00000361052
ENSP00000361060
ENSP00000379698