ALG14 Chromosome 1
ALG14 UDP-N-acetylglucosaminyltransferase subunit
Upload your DNA to see your personal genotypes for variants in ALG14.
What This Gene Does
This gene is a member of the glycosyltransferase 1 family. The encoded protein and ALG13 are thought to be subunits of UDP-GlcNAc transferase, which catalyzes the first two committed steps in endoplasmic reticulum N-linked glycosylation. Mutations in this gene have been linked to congenital myasthenic syndrome (CMSWTA). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]
Gene Info
Gene Group
UDP-N-acetylglucosaminyltransferase subunits
Locus Type
gene with protein product
Location
1p21.3
Ensembl
ENSG00000172339
Associated Conditions (11)
Congenital myasthenic syndrome 15
ALG14-related disorder
Congenital myopathy
Intellectual developmental disorder with epilepsy
behavioral abnormalities
and coarse facies
Inborn genetic diseases
Myopathy
epilepsy
and progressive cerebral atrophy
See cases
Key Variants
RS139521179
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 15, ALG14-related disorder, Congenital myasthenic syndrome 15
Health Risk
RS150550220
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 15, Congenital myopathy, Congenital myasthenic syndrome 15
Health Risk
RS1673843345
Conflicting classifications of pathogenicity
Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies
Health Risk
RS201827828
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 15, Inborn genetic diseases, Congenital myasthenic syndrome 15
Health Risk
RS367570129
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 15, Congenital myasthenic syndrome 15
Health Risk
RS756921157
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 15, Intellectual developmental disorder with epilepsy, behavioral abnormalities
Health Risk
RS769114543
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 15, Myopathy, epilepsy
Health Risk
RS730882050
Pathogenic
Congenital myasthenic syndrome 15, Congenital myasthenic syndrome 15
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139521179 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 15, ALG14-related disorder, Congenital myasthenic syndrome 15 |
| RS150550220 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 15, Congenital myopathy, Congenital myasthenic syndrome 15 |
| RS1673843345 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies |
| RS201827828 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 15, Inborn genetic diseases, Congenital myasthenic syndrome 15 |
| RS367570129 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 15, Congenital myasthenic syndrome 15 |
| RS756921157 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 15, Intellectual developmental disorder with epilepsy, behavioral abnormalities |
| RS769114543 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 15, Myopathy, epilepsy |
| RS730882050 | Health Risk | Pathogenic | Congenital myasthenic syndrome 15, Congenital myasthenic syndrome 15 |