| Tbio | UDP-N-acetylglucosamine transferase subunit ALG14 homolog |
May be involved in protein N-glycosylation. May play a role in the second step of the dolichol-linked oligosaccharide pathway. May anchor the catalytic subunit ALG13 to the ER.
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]
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]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Myasthenic Syndromes, Congenital | 16 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| posterior fossa group A ependymoma | 468 | 1.6e-05 |
| ovarian cancer | 8520 | 6.3e-05 |
| pancreatic cancer | 2398 | 1.1e-02 |
| pancreatic carcinoma | 562 | 1.1e-02 |
| group 3 medulloblastoma | 4104 | 1.8e-02 |
| acute myeloid leukemia | 783 | 3.4e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Congenital myasthenic syndrome | 25 | 0.0 | 4.0 |
| Disease | Target Count |
|---|---|
| MYASTHENIC SYNDROME, CONGENITAL, 15 | 1 |
| Disease | log2 FC | p |
|---|---|---|
| acute myeloid leukemia | -1.600 | 3.4e-02 |
| group 3 medulloblastoma | 1.100 | 1.8e-02 |
| ovarian cancer | 1.700 | 6.3e-05 |
| pancreatic cancer | 1.400 | 1.1e-02 |
| pancreatic carcinoma | 1.400 | 1.1e-02 |
| posterior fossa group A ependymoma | 1.200 | 1.6e-05 |
