Identity
HGNC
LOCATION
9q34.13
LOCUSID
ALIAS
LGMD2K,LGMDR11,MDDGA1,MDDGB1,MDDGC1,RT
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 10585
MIM: 607423
HGNC: 9202
Ensembl: ENSG00000130714
Variants:
dbSNP: 10585
ClinVar: 10585
TCGA: ENSG00000130714
COSMIC: POMT1
RNA/Proteins
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33863907 | 2021 | Enhanced influenza A H1N1 T cell epitope recognition and cross-reactivity to protein-O-mannosyltransferase 1 in Pandemrix-associated narcolepsy type 1. | 14 |
| 34565739 | 2021 | POMT1 and POMT2 gene mutations result in 2 cases of alpha-dystroglycanopathy. | 0 |
| 33863907 | 2021 | Enhanced influenza A H1N1 T cell epitope recognition and cross-reactivity to protein-O-mannosyltransferase 1 in Pandemrix-associated narcolepsy type 1. | 14 |
| 34565739 | 2021 | POMT1 and POMT2 gene mutations result in 2 cases of alpha-dystroglycanopathy. | 0 |
| 29419866 | 2018 | [Analysis of POMT1 gene mutation in a pedigree affected with congenital muscular dystrophy]. | 1 |
| 30454682 | 2018 | Molecular genetics of the POMT1-related muscular dystrophy-dystroglycanopathies. | 5 |
| 29419866 | 2018 | [Analysis of POMT1 gene mutation in a pedigree affected with congenital muscular dystrophy]. | 1 |
| 30454682 | 2018 | Molecular genetics of the POMT1-related muscular dystrophy-dystroglycanopathies. | 5 |
| 28157257 | 2017 | Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1. | 13 |
| 28512129 | 2017 | Mammalian O-mannosylation of cadherins and plexins is independent of protein O-mannosyltransferases 1 and 2. | 23 |
| 28157257 | 2017 | Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1. | 13 |
| 28512129 | 2017 | Mammalian O-mannosylation of cadherins and plexins is independent of protein O-mannosyltransferases 1 and 2. | 23 |
| 26245304 | 2016 | Protein O-mannosylation is crucial for human mesencyhmal stem cells fate. | 6 |
| 27193224 | 2016 | Analysis of phenotype, enzyme activity and genotype of Chinese patients with POMT1 mutation. | 6 |
| 27358400 | 2016 | Functional Similarities between the Protein O-Mannosyltransferases Pmt4 from Bakers' Yeast and Human POMT1. | 7 |
Citation
Dessen P
POMT1 (protein O-mannosyltransferase 1)
Atlas Genet Cytogenet Oncol Haematol. 2009-08-01
Online version: http://atlasgeneticsoncology.org/gene/50992/pomt1-(protein-o-mannosyltransferase-1)
