| Tbio | 3-ketodihydrosphingosine reductase |
Catalyzes the reduction of 3-ketodihydrosphingosine (KDS) to dihydrosphingosine (DHS).
The protein encoded by this gene catalyzes the reduction of 3-ketodihydrosphingosine to dihydrosphingosine. The putative active site residues of the encoded protein are found on the cytosolic side of the endoplasmic reticulum membrane. A chromosomal rearrangement involving this gene is a cause of follicular lymphoma, also known as type II chronic lymphatic leukemia. The mutation of a conserved residue in the bovine ortholog causes spinal muscular atrophy. [provided by RefSeq, Jul 2008]
The protein encoded by this gene catalyzes the reduction of 3-ketodihydrosphingosine to dihydrosphingosine. The putative active site residues of the encoded protein are found on the cytosolic side of the endoplasmic reticulum membrane. A chromosomal rearrangement involving this gene is a cause of follicular lymphoma, also known as type II chronic lymphatic leukemia. The mutation of a conserved residue in the bovine ortholog causes spinal muscular atrophy. [provided by RefSeq, Jul 2008]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Lymphoma, Follicular | 18 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| Breast cancer | 3578 | 3.3e-07 |
| ovarian cancer | 8520 | 1.4e-04 |
| Astrocytoma, Pilocytic | 3081 | 3.3e-04 |
| pancreatic ductal adenocarcinoma liver metastasis | 1962 | 7.4e-04 |
| Down syndrome | 499 | 3.3e-03 |
| invasive ductal carcinoma | 2951 | 3.5e-03 |
| Multiple myeloma | 1332 | 6.4e-03 |
| aldosterone-producing adenoma | 665 | 1.7e-02 |
| tuberculosis and treatment for 6 months | 409 | 2.6e-02 |
| gastric cancer | 459 | 3.7e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Autosomal recessive congenital ichthyosis 4B | 13 | 3.616 | 1.8 |
| Disease | log2 FC | p |
|---|---|---|
| aldosterone-producing adenoma | -1.141 | 1.7e-02 |
| Astrocytoma, Pilocytic | 1.300 | 3.3e-04 |
| Breast cancer | -1.200 | 3.3e-07 |
| Down syndrome | 1.100 | 3.3e-03 |
| gastric cancer | 1.100 | 3.7e-02 |
| invasive ductal carcinoma | -1.100 | 3.5e-03 |
| Multiple myeloma | 1.568 | 6.4e-03 |
| ovarian cancer | -1.200 | 1.4e-04 |
| pancreatic ductal adenocarcinoma liver m... | -1.957 | 7.4e-04 |
| tuberculosis and treatment for 6 months | -1.300 | 2.6e-02 |
MLLLAAAFLVAFVLLLYMVSPLISPKPLALPGAHVVVTGGSSGIGKCIAIECYKQGAFITLVARNEDKLL 1 - 70 QAKKEIEMHSINDKQVVLCISVDVSQDYNQVENVIKQAQEKLGPVDMLVNCAGMAVSGKFEDLEVSTFER 71 - 140 LMSINYLGSVYPSRAVITTMKERRVGRIVFVSSQAGQLGLFGFTAYSASKFAIRGLAEALQMEVKPYNVY 141 - 210 ITVAYPPDTDTPGFAEENRTKPLETRLISETTSVCKPEQVAKQIVKDAIQGNFNSSLGSDGYMLSALTCG 211 - 280 MAPVTSITEGLQQVVTMGLFRTIALFYLGSFDSIVRRCMMQREKSENADKTA 281 - 332 //
