| Tbio | Mitochondrial thiamine pyrophosphate carrier |
Mitochondrial transporter mediating uptake of thiamine pyrophosphate (ThPP) into mitochondria.
This gene encodes a mitochondrial protein that is a member of the solute carrier family. Although this protein was initially thought to be the mitochondrial deoxynucleotide carrier involved in the uptake of deoxynucleotides into the matrix of the mitochondria, further studies have demonstrated that this protein instead functions as the mitochondrial thiamine pyrophosphate carrier, which transports thiamine pyrophosphates into mitochondria. Mutations in this gene cause microcephaly, Amish type, a metabolic disease that results in severe congenital microcephaly, severe 2-ketoglutaric aciduria, and death within the first year. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]
This gene encodes a mitochondrial protein that is a member of the solute carrier family. Although this protein was initially thought to be the mitochondrial deoxynucleotide carrier involved in the uptake of deoxynucleotides into the matrix of the mitochondria, further studies have demonstrated that this protein instead functions as the mitochondrial thiamine pyrophosphate carrier, which transports thiamine pyrophosphates into mitochondria. Mutations in this gene cause microcephaly, Amish type, a metabolic disease that results in severe congenital microcephaly, severe 2-ketoglutaric aciduria, and death within the first year. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Amish lethal microcephaly | 1 | 0.0 | 0.0 |
| THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE) | 1 | 0.0 | 0.0 |
| Disease | Target Count |
|---|---|
| MICROCEPHALY, AMISH TYPE (disorder) | 1 |
| Disease | Target Count | P-value |
|---|---|---|
| tuberculosis | 2010 | 7.1e-07 |
| adrenocortical carcinoma | 1428 | 2.5e-06 |
| group 4 medulloblastoma | 1855 | 4.2e-05 |
| inflammatory breast cancer | 286 | 1.2e-03 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Leigh disease | 100 | 0.0 | 5.0 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Neuropathy | 261 | 0.0 | 4.0 |
| Disease | Target Count |
|---|---|
| Microcephaly, Amish Type | 1 |
| Striatal necrosis, bilateral, and progressive polyneuropathy | 1 |
| Disease | log2 FC | p |
|---|---|---|
| adrenocortical carcinoma | -1.409 | 2.5e-06 |
| group 4 medulloblastoma | -1.200 | 4.2e-05 |
| inflammatory breast cancer | 1.200 | 1.2e-03 |
| tuberculosis | -1.100 | 7.1e-07 |
MVGYDPKPDGRNNTKFQVAVAGSVSGLVTRALISPFDVIKIRFQLQHERLSRSDPSAKYHGILQASRQIL 1 - 70 QEEGPTAFWKGHVPAQILSIGYGAVQFLSFEMLTELVHRGSVYDAREFSVHFVCGGLAACMATLTVHPVD 71 - 140 VLRTRFAAQGEPKVYNTLRHAVGTMYRSEGPQVFYKGLAPTLIAIFPYAGLQFSCYSSLKHLYKWAIPAE 141 - 210 GKKNENLQNLLCGSGAGVISKTLTYPLDLFKKRLQVGGFEHARAAFGQVRRYKGLMDCAKQVLQKEGALG 211 - 280 FFKGLSPSLLKAALSTGFMFFSYEFFCNVFHCMNRTASQR 281 - 320 //
