| Tbio | Membrane transport protein XK |
May be involved in sodium-dependent transport of neutral amino acids or oligopeptides.
This locus controls the synthesis of the Kell blood group 'precursor substance' (Kx). Mutations in this gene have been associated with McLeod syndrome, an X-linked, recessive disorder characterized by abnormalities in the neuromuscular and hematopoietic systems. The encoded protein has structural characteristics of prokaryotic and eukaryotic membrane transport proteins. [provided by RefSeq, Jul 2008]
This locus controls the synthesis of the Kell blood group 'precursor substance' (Kx). Mutations in this gene have been associated with McLeod syndrome, an X-linked, recessive disorder characterized by abnormalities in the neuromuscular and hematopoietic systems. The encoded protein has structural characteristics of prokaryotic and eukaryotic membrane transport proteins. [provided by RefSeq, Jul 2008]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Neuroacanthocytosis | 6 | 4.337 | 2.2 |
| Hematologic Diseases | 8 | 0.0 | 0.0 |
| Mental disorders | 12 | 0.0 | 0.0 |
| Movement Disorders | 55 | 0.0 | 0.0 |
| Neuroacanthocytosis, Mcleod Type | 1 | 0.0 | 0.0 |
| Neuromuscular Diseases | 2 | 0.0 | 0.0 |
| Peripheral Nervous System Diseases | 52 | 0.0 | 0.0 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Ornithine carbamoyltransferase deficiency | 12 | 3.864 | 1.9 |
| Plasmodium vivax malaria | 4 | 3.145 | 1.6 |
| Disease | Target Count |
|---|---|
| McLeod neuroacanthocytosis syndrome | 1 |
MKFPASVLASVFLFVAETTAALSLSSTYRSGGDRMWQALTLLFSLLPCALVQLTLLFVHRDLSRDRPLVL 1 - 70 LLHLLQLGPLFRCFEVFCIYFQSGNNEEPYVSITKKRQMPKNGLSEEIEKEVGQAEGKLITHRSAFSRAS 71 - 140 VIQAFLGSAPQLTLQLYISVMQQDVTVGRSLLMTISLLSIVYGALRCNILAIKIKYDEYEVKVKPLAYVC 141 - 210 IFLWRSFEIATRVVVLVLFTSVLKTWVVVIILINFFSFFLYPWILFWCSGSPFPENIEKALSRVGTTIVL 211 - 280 CFLTLLYTGINMFCWSAVQLKIDSPDLISKSHNWYQLLVYYMIRFIENAILLLLWYLFKTDIYMYVCAPL 281 - 350 LVLQLLIGYCTAILFMLVFYQFFHPCKKLFSSSVSEGFQRWLRCFCWACRQQKPCEPIGKEDLQSSRDRD 351 - 420 ETPSSSKTSPEPGQFLNAEDLCSA 421 - 444 //
