| 词条 | XK (protein) |
| 释义 |
|Name=XK (protein) |image= |caption= |Symbol=XK |AltSymbols=XKR1, Kx, X1k |HGNCid=12811 |Chromosome=X |Arm=p |Band=21.2 |LocusSupplementaryData= -p21.1 |ECnumber= |OMIM=314850 |EntrezGene=7504 |RefSeq=NM_021083 |UniProt=P51811 |PDB=BAE48708 }} XK (also known as Kell blood group precursor) is a protein found on human red blood cells and other tissues which is responsible for the Kx antigen which helps determine a person's blood type. Clinical significanceThe Kx antigen plays a role in matching blood for blood transfusions. Mutation of XK protein may lead to McLeod syndrome,[1] a multi-system disorder characterized by hemolytic anemia, myopathy, acanthocytosis, and chorea.[2] XK is located on the X chromosome (cytogenetic band Xp21.1) and absence of the XK protein is an X-linked disease.[3] FunctionXK is a membrane transport protein of unknown action.[4] References1. ^{{cite journal |vauthors=Arnaud L, Salachas F, Lucien N, etal |title=Identification and characterization of a novel XK splice site mutation in a patient with McLeod syndrome |journal=Transfusion |volume=49 |issue=3 |pages=479–84 |date=March 2009 |pmid=19040496 |doi=10.1111/j.1537-2995.2008.02003.x }} 2. ^{{cite journal | last1 = Malandrini | first1 = A | last2 = Fabrizi | first2 = GM | last3 = Truschi | first3 = F | last4 = Di Pietro | first4 = G | last5 = Moschini | first5 = F | last6 = Bartalucci | first6 = P | last7 = Berti | first7 = G | last8 = Salvadori | first8 = C | last9 = Bucalossi | first9 = A | displayauthors=8 |title = Atypical McLeod syndrome manifested as X-linked chorea-acanthocytosis, neuromyopathy and dilated cardiomyopathy: report of a family | journal = Journal of the Neurological Sciences | volume = 124 | issue = 1 | pages = 89–94 | year = 1994 | pmid = 7931427 | doi = 10.1016/0022-510X(94)90016-7 }} 3. ^{{cite journal | last1 = Ho | first1 = MF | last2 = Monaco | first2 = AP | last3 = Blonden | first3 = LA | last4 = Van Ommen | first4 = GJ | last5 = Affara | first5 = NA | last6 = Ferguson-Smith | first6 = MA | last7 = Lehrach | first7 = H | title = Fine mapping of the McLeod locus (XK) to a 150-380-kb region in Xp21 | journal = American Journal of Human Genetics | volume = 50 | issue = 2 | pages = 317–30 | year = 1992 | pmid = 1734714 | pmc = 1682457 }} 4. ^{{cite journal | last1 = Jung | first1 = HH | last2 = Russo | first2 = D | last3 = Redman | first3 = C | last4 = Brandner | first4 = S | title = Kell and XK immunohistochemistry in McLeod myopathy | journal = Muscle & Nerve | volume = 24 | issue = 10 | pages = 1346–51 | year = 2001 | pmid = 11562915 | doi = 10.1002/mus.1154 }} External links
1 : Blood antigen systems |
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