Protein O -mannose beta-1,2- N -acetylglucosaminyltransferase 1

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Protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
other names

Protein o-linked mannose beta1,2-N-acetylglucosaminyltransferase (obsolete)

Properties of human protein
Identifier
Gene names POMGNT 1 MEB (obsolete)
External IDs
Orthologue
human House mouse
Entrez 55624 68273
Ensemble ENSG00000085998 ENSMUSG00000028700
UniProt Q8WZA1 Q91X88
Refseq (mRNA) NM_001243766 NM_001290658
Refseq (protein) NP_001230695 NP_001277587
Gene locus Chr 1: 46.19 - 46.22 Mb Chr 4: 116.12 - 116.16 Mb
PubMed search 55624 68273

The protein O-mannose beta-1,2-N-acetylglucosaminyltransferase 1 , also obsolete protein o-linked mannose beta-1,2-N-acetylglucosaminyltransferase with gene symbol POMGNT1 (obsolete: MEB ) is an enzyme that is involved in O -glycosylation plays a role. It is specific for the α-linked terminal mannose . It is a transmembrane protein that is located in the Golgi apparatus .

function

The protein O-mannose beta-1,2-N-acetylglucosaminyltransferase 1 shifts N-acetylglucosamine residues to O- mannose (mannose with ether linkage ) and thus takes part in O -glycosylation . The O -glycosylation is in turn essential for the function of dystroglycan - the central element of the dystrophin-glycoprotein complex . Analyzes have shown that the enzyme is specific for alpha-linked terminal mannose and shows no MGAT3 , MGAT4 , MGAT5 , MGAT7 or MGAT8 activity.

Clinical reference

Mutations in the POMGNT1 gene can lead to four different forms of muscular dystrophy in connection with dystroglycanopathy (English "muscular dystrophy-dystroglycanopathy"); including a severe form with abnormalities in the eyes and brain called Walker-Warburg syndrome , muscle-eye-brain disease , a less mild form with less mental impairment, and a mild form of girdle dystrophy . This corresponds to the types of Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies type A3, B3 and C3 defined by Online Mendelian Inheritance in Man 2011 . Orphanet describes the diseases caused by the following terms: Walker-Warburg syndrome , muscle-eye-brain disease , autosomal recessive limb girdle dystrophy type 2O and congenital muscular dystrophy with cerebellar involvement . Yoshida and others found six different mutations in six patients for muscle-eye-brain disease alone.

Individual evidence

  1. ↑ a b Protein O-mannose beta-1,2-N-acetylglucosaminyltransferase 1. In: Orphanet (database for rare diseases).
  2. ↑ a b c d Protein O-mannose beta-1,2-N-acetylglucosaminyltransferase 1.  In: Online Mendelian Inheritance in Man . (English)
  3. ↑ http://www.ncbi.nlm.nih.gov/gene/55624
  4. ↑ W. Zhang, D. Betel, H. Schachter: Cloning 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 I . In: The Biochemical Journal . 361, No. 1, January 2002, pp. 153-162. doi : 10.1042 / bj3610153 . PMID 11742540 . PMC 1222290 (free full text).
  5. ↑ A. Yoshida et al .: Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1 . In: Developmental Cell . 1, No. 5, November 2001, pp. 717-724. doi : 10.1016 / S1534-5807 (01) 00070-3 . PMID 11709191 .