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20-September-2008 09:55:54 - Kell antigen system Kell protein Identifiers Symbol KEL Alt. Symbols ECE3, CD238 Entrez 3792 HUGO 6308 OMIM 110900 RefSeq NM_000420 UniProt P23276 Other data Locus Chr. 7 q33 The Kell antigen system also known as Kell-Cellano system is a group of antigens on the human red blood cell surface which are important determinants of blood type and are targets for autoimmune or alloimmune diseases which destroy red blood cells. The Kell antigens are peptides found within the kell protein, a 93 kilodalton transmembrane zinc-dependent endopeptidase which is responsible for cleaving endothelin-3.12 There are several alleles of the gene which creates Kell protein. Two such alleles, K1 Kell and K2 Cellano, are the most common. The kell protein is tightly bound to a second protein, XK, by a disulfide bond. Absence of the XK protein such as through genetic deletion, leads to marked reduction of the Kell antigens on the red blood cell surface. Absence of the Kell protein K0, however, does not affect the XK protein.3 The Kell protein has also recently been designated CD238 cluster of differentiation 238. Contents 1 Disease association 2 McLeod phenotype 3 History 4 Other associations 5 References 6 External links Disease association Kell antigens are important in transfusion medicine, autoimmune hemolytic anemia, and hemolytic disease of the newborn. Individuals lacking a specific Kell antigen may develop antibodies against Kell antigens when transfused with blood containing that antigen. Subsequent blood transfusions may be marked by destruction of the new cells by these antibodies, a process known as hemolysis. People without Kell antigensK0, must be transfused with blood from donors who are also K0 to prevent hemolysis. Autoimmune hemolytic anemia AIHA occurs when the body produces an antibody against a blood group antigen on its own red blood cells. The antibodies lead to destruction of the red blood cells with resulting anemia. Similarly, a pregnant woman may develop antibodies against fetal red blood cells, resulting in destruction, anemia, and hydrops fetalis in a process known as hemolytic disease of the newborn HDN. Both AIHA and HDN may be severe when caused by anti-Kell antibodies,4 as they are the most immunogenic antigens after those of the ABO and Rhesus blood group systems. McLeod phenotype Main article: McLeod syndrome McLeod phenotype or McLeod syndrome is an X-linked anomaly of the Kell blood group system in which Kell antigens are poorly detected by laboratory tests. The McLeod gene encodes the XK protein, a protein with structural characteristics of a membrane transport protein but an unknown function. The XK appears to be required for proper synthesis or presentation of the Kell antigens on the red blood cell surface. History The Kell group was named after the first patient described with antibodies to K1, a pregnant woman named Mrs. Kellacher in 1945.5 Mrs. Cellano was likewise a pregnant woman with the first described antibodies to K2. The K0 phenotype was first described in 1957 and the McLeod phenotype was found in Hugh McLeod, a Harvard dental student, in 1961.67 Other associations Evidence supports a genetic link between the Kell blood group on chromosome 7 q33 and the ability to taste phenylthiocarbamide, or PTC, a bitter-tasting thiourea compound.89 Bitter taste receptor proteins in the taste buds of the tongue that recognise PTC are encoded on nearby chromosome locus 7 q35-6. References ^ Lee S, Wu X, Reid M, Zelinski T, Redman C 1995. Molecular basis of the Kell K1 phenotype. Blood 85 4: 912-6. PMID 7849312. ^ Lee S, Lin M, Mele A, Cao Y, Farmar J, Russo D, Redman C 1999. Proteolytic processing of big endothelin-3 by the kell blood group protein. Blood 94 4: 1440-50. PMID 10438732. ^ Yu LC, Twu YC, Chang CY, Lin M 2001. Molecular basis of the Kell-null phenotype: a mutation at the splice site of human KEL gene abolishes the expression of Kell blood group antigens. J. Biol. Chem. 276 13: 10247-52. doi:10.1074/jbc.M009879200. PMID 11134029. ^ Weiner CP, Widness JA 1996. Decreased fetal erythropoiesis and hemolysis in Kell hemolytic anemia. Am. J. Obstet. Gynecol. 174 2: 547-51. PMID 8623782. ^ Coombs RRA, Mourant AE, Race RR. A new test for the detection of weak and incomplete Rh agglutinins. Br J Exp Pathol 1945;26:255 ^ Chown B, Lewis M, Kaita K 1957. A new Kell blood-group phenotype. Nature 180 4588: 711. PMID 13477267. ^ Allen FH Jr, Krabbe SM, Corcoran PA 1961. A new phenotype McLeod in the Kell blood-group system. Vox Sang. 6: 555-60. PMID 13860532. ^ Crandall BF, Spence MA 1974. Linkage relations of the phenylthiocarbamide locus PTC. Hum. Hered. 24 3: 247-52. PMID 4435792. ^ Conneally PM, Dumont-Driscoll M, Huntzinger RS, Nance WE, Jackson CE 1976. Linkage relations of the loci for Kell and phenylthiocarbamide taste sensitivity. Hum. Hered. 26 4: 267-71. PMID 976995. External links Online 'Mendelian Inheritance in Man' OMIM 110900 - OMIM entry for Kell protein Online 'Mendelian Inheritance in Man' OMIM 314850 - OMIM entry for XK protein Kell at BGMUT Blood Group Antigen Gene Mutation Database at NCBI, NIH MeSH KEL+protein,+human v d e Proteins: clusters of differentiation see also list of human clusters of differentiation 1-50 CD1 a-c, 1A, 1D, 1E - CD2 - CD3 γ, δ, ε - CD4 - CD5 - CD6 - CD7 - CD8 a - CD9 - CD10 - CD11 a, b, c - CD13 - CD14 - CD15 - CD16 A, B - CD18 - CD19 - CD20 - CD21 - CD22 - CD23 - CD24 - CD25 - CD26 - CD27 - CD28 - CD29 - CD30 - CD31 - CD32 A, B - CD33 - CD34 - CD35 - CD36 - CD37 - CD38 - CD39 - CD40 - CD41- CD42 a, b, c, d - CD43 - CD44 - CD45 - CD46 - CD47 - CD48 - CD49 a, b, c, d, e, f - CD50 51-100 CD51 - CD52 - CD53 - CD54 - CD55 - CD56 - CD57- CD58 - CD59 - CD61 - CD62 E, L, P - CD63 - CD64 - CD66 a, b, c, d, e, f - CD68 - CD69 - CD70 - CD71 - CD72 - CD73 - CD74 - CD79 a, b - CD80 - CD81 - CD82 - CD83 - CD84 - CD85 a, d, e, h, j, k - CD86 - CD87 - CD88 - CD89 - CD90 - CD91- CD92 - CD93 - CD94 - CD95 - CD97 - CD98 - CD99 - CD100 101-150 CD101 - CD102 - CD103 - CD104 - CD105 - CD106 - CD107 a, b - CD108 - CD109 - CD110 - CD111 - CD112 - CD113 - CD114 - CD115 - CD116 - CD117 - CD118 - CD119 - CD120 a, b - CD121 a, b - CD122 - CD123 - CD124 - CD125 - CD126 - CD127 - CD129 - CD130 - CD131 - CD132 - CD133 - CD134 - CD135 - CD136 - CD137 - CD138 - CD140b - CD141 - CD142 - CD143 - CD144 - CD146 - CD147 - CD148 - CD150 151-200 CD151 - CD152 - CD153 - CD154 - CD155 - CD156 a, b, c - CD157 - CD158 a, d, e, i, k - CD159 a, c - CD160 - CD161 - CD162 - CD163 - CD164 - CD166 - CD167 a, b - CD168 - CD169 - CD170 - CD171 - CD172 a, b, g - CD174 - CD177 - CD178 - CD179 a, b - CD181 - CD182 - CD183 - CD184 - CD185 - CD186 - CD191 - CD192 - CD193 - CD194 - CD195 - CD196 - CD197 - CDw198 - CDw199 - CD200 201-250 CD201 - CD202b - CD204 - CD205 - CD206 - CD207 - CD208 - CD209 - CDw210 a, b - CD212 - CD213a 1, 2 - CD217 - CD218 a, b - CD220 - CD221 - CD222 - CD223 - CD224 - CD225 - CD226 - CD227 - CD228 - CD229 - CD230 - CD233 - CD234 - CD235 a, b - CD236 - CD238 - CD239 - CD240CE - CD241 - CD243 - CD244 - CD246 - CD247- CD248 - CD249 251-300 CD252 - CD253 - CD254 - CD256 - CD257 - CD258 - CD261 - CD262 - CD264 - CD265 - CD266 - CD267 - CD268 - CD269 - CD271 - CD272 - CD273 - CD274 - CD275 - CD276 - CD278 - CD279 - CD280 - CD281 - CD282 - CD283 - CD284 - CD286 - CD288 - CD289 - CD290 - CD292 - CDw293 - CD294 - CD295 - CD297 - CD298 - CD299 301-350 CD300A - CD304 - CD305 - CD307 - CD309 - CD312 - CD314 - CD315 - CD316 - CD317 - CD318 - CD320 - CD321 - CD322 - CD324 - CD325 - CD326 - CD328 - CD329 - CD331 - CD332 - CD333 - CD334 - CD335 - CD336 - CD337 - CD338 - CD339 - CD340 - CD344 - CD349 - CD350 v d e Transfusion medicine General concepts Apheresis Plasmapheresis, Plateletpheresis, Leukapheresis - Blood transfusion - Coombs test - Cross-matching - Exchange transfusion - International Society of Blood Transfusion - Intraoperative blood salvage - ISBT 128 - Transfusion reactions Human blood group systems - Blood type ABO - Chido-Rodgers - Colton - Cromer - Diego - Dombrock - Duffy - Gerbich - GIL - Hh - Ii - Indian - JMH - Kell Xk - Kidd - Knops - LW - Lewis - Lutheran - MNS - OK - P - Raph - Rh - Scianna - T-Tn - Xg - Yt - Other Blood products Blood donation - Blood substitutes - Cryoprecipitate - Platelets - Plasma - Red blood cells - Whole blood Retrieved from http://en..org/wiki/Kell_antigen_system Categories: Genes on chromosome 7 | Clusters of differentiation | Transfusion medicine | Hematology | Blood antigen systemsHidden category: Protein pages needing a picture Views Article Discussion this page History Personal tools Log in / create account Navigation Main page Contents Featured content Current events Random article Search Go Search Interaction Community portal Recent changes Contact Donate to Help Toolbox What links here Related changes Upload file Special pages Printable version Permanent link Cite this page Languages Lietuvių This page was last modified on 29 May 2008, at 19:30

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