| 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 |
|---|---|
| McLeod neuroacanthocytosis syndrome | 1 |
| Neuroacanthocytosis | 5 |
| Disease | Target Count |
|---|---|
| McLeod syndrome | 1 |
| Species | Source |
|---|---|
| Chimp | OMA EggNOG Inparanoid |
| Macaque | OMA Inparanoid |
| Mouse | OMA Inparanoid |
| Rat | OMA Inparanoid |
| Dog | OMA Inparanoid |
| Horse | OMA Inparanoid |
| Opossum | OMA Inparanoid |
| Chicken | OMA Inparanoid |
| Anole lizard | OMA Inparanoid |
| Xenopus | OMA Inparanoid |
| Zebrafish | OMA Inparanoid |
| PMID | Text |
|---|---|
| 26308465 | the expression of KX is critical to normal morphology, and null mutations are associated with the McLeod neuroacanthocytosis syndrome. |
| 24816235 | The XK gene was not linked to hypermutability in red cells from patients with paroxysmal nocturnal hemoglobinuria. |
| 24635891 | study reports the clinical findings and a novel nonsense hemizygous mutation, c.154C>T (p.Gln52X) at exon 1 of XK gene in a Taiwanese family with McLeod syndrome |
| 21463873 | Novel XK protein mutations are reported in two patients who exhibit typical clinical characteristics of McLeod syndrome. |
| 21145924 | This study identified one non-synonymous and one intron variant in mood disorder and schizophrenia subjects, respectively, in XK. |
| 17469188 | Sequence analysis demonstrated a 5 bp deletion in exon 2 of the XK gene in McLeod syndrome. |
| 17379193 | In human cortex, the results show expression of XK in cortical neurons with an apparent cytoplasmic localization. |
MKFPASVLASVFLFVAETTAALSLSSTYRSGGDRMWQALTLLFSLLPCALVQLTLLFVHRDLSRDRPLVL 1 - 70 LLHLLQLGPLFRCFEVFCIYFQSGNNEEPYVSITKKRQMPKNGLSEEIEKEVGQAEGKLITHRSAFSRAS 71 - 140 VIQAFLGSAPQLTLQLYISVMQQDVTVGRSLLMTISLLSIVYGALRCNILAIKIKYDEYEVKVKPLAYVC 141 - 210 IFLWRSFEIATRVVVLVLFTSVLKTWVVVIILINFFSFFLYPWILFWCSGSPFPENIEKALSRVGTTIVL 211 - 280 CFLTLLYTGINMFCWSAVQLKIDSPDLISKSHNWYQLLVYYMIRFIENAILLLLWYLFKTDIYMYVCAPL 281 - 350 LVLQLLIGYCTAILFMLVFYQFFHPCKKLFSSSVSEGFQRWLRCFCWACRQQKPCEPIGKEDLQSSRDRD 351 - 420 ETPSSSKTSPEPGQFLNAEDLCSA 421 - 444 //
| PMID | Year | Title |
|---|---|---|
| 26308465 | 2015 | Kell and Kx blood group systems. |
| 24816235 | 2014 | No evidence of hypermutability in red cells from patients with paroxysmal nocturnal hemoglobinuria using the XK gene. |
| 24635891 | 2014 | A novel XK gene mutation in a Taiwanese family with McLeod syndrome. |
| 21463873 | 2011 | Two McLeod patients with novel mutations in XK. |
| 21145924 | 2011 | Comprehensive analysis of the genes responsible for neuroacanthocytosis in mood disorder and schizophrenia. |
| 17469188 | 2007 | Phenotypic variability of a distinct deletion in McLeod syndrome. |
| 17379193 | 2007 | The Kell and XK proteins of the Kell blood group are not co-expressed in the central nervous system. |
| 17302777 | 2007 | McLeod phenotype without the McLeod syndrome. |
| 17081983 | 2006 | Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. |
| 15489334 | 2004 | The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |
| More... |
