Identity
HGNC
LOCATION
1p21.3
LOCUSID
ALIAS
CMS15,IDDEBF,MEPCA
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: 199857
MIM: 612866
HGNC: 28287
Ensembl: ENSG00000172339
Variants:
dbSNP: 199857
ClinVar: 199857
TCGA: ENSG00000172339
COSMIC: ALG14
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000172339 | ENST00000370205 | Q96F25 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33751823 | 2021 | A novel ALG14 missense variant in an alive child with myopathy, epilepsy, and progressive cerebral atrophy. | 2 |
| 33751823 | 2021 | A novel ALG14 missense variant in an alive child with myopathy, epilepsy, and progressive cerebral atrophy. | 2 |
| 30221345 | 2018 | Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability. | 14 |
| 30221345 | 2018 | Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability. | 14 |
| 28733338 | 2017 | Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG. | 8 |
| 28733338 | 2017 | Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG. | 8 |
| 23404334 | 2013 | Congenital myasthenic syndromes due to mutations in ALG2 and ALG14. | 50 |
| 23404334 | 2013 | Congenital myasthenic syndromes due to mutations in ALG2 and ALG14. | 50 |
| 16100110 | 2005 | Alg14 recruits Alg13 to the cytoplasmic face of the endoplasmic reticulum to form a novel bipartite UDP-N-acetylglucosamine transferase required for the second step of N-linked glycosylation. | 48 |
| 16100110 | 2005 | Alg14 recruits Alg13 to the cytoplasmic face of the endoplasmic reticulum to form a novel bipartite UDP-N-acetylglucosamine transferase required for the second step of N-linked glycosylation. | 48 |
Citation
Dessen P
ALG14 (ALG14 UDP-N-acetylglucosaminyltransferase subunit)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54116/alg14-(alg14-udp-n-acetylglucosaminyltransferase-subunit)
