Page 1910 - Hematology_ Basic Principles and Practice ( PDFDrive )
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1690   Part XI  Transfusion Medicine






                            Adhesion molecule     Glycerol/ water/ urea   transport  Ammonia transport  Glycosyltransferase  Urate exporter; porphyrin   hemostasis  Binds heme and   porphyrins. Important in   heme synthesis  Complement regulation;   inhibits MAC complex  Nucleoside transmembrane   transporter


                         Function  Glycosylation  Glycosylation                      Not known










                         Disease Association  Absent from PNHIII RBCs  Cataracts in Asians  Receptor E. coli and   Parvovirus-B19  Spontaneous abortion  Hereditary overhydrated   stomatocytosis  Gout; multidrug resistance in   cancer  Dyschromatosis universalis  hereditaria; Microphthalmia  Hemolytic anemia, with or without   polyneuropathy Pseudo gout in the null phenotype












                         Present in Other Tissue  Broad tissue distribution  Broad tissue distribution Placenta (trophoblasts and   interstitial cells)  Board tissue distribution Kidney, prostate, GI tract, spleen,   skin, eye  RBC-specific but homologs RhBG, RhCG in kidney,   liver, skin, GI tract  Broad tissue distribution Broad tissue distribution. High in   placenta, seminal vesicles.  Broad tissue distribution  RBCs, salivary glands, testis Broad tissue distribution; Soluble   f








                  Blood Group Systems, Antigens, Expression, and Disease Associations—cont’d
                      Principal Associated Blood   Group Antigens (null   phenotype)  JMH  I (I− or i adult)  P (P−)  P k  and p  GIL (GIL−)  RHAG1 or Duclos, RHAG2   or Ol a , RHAG3 or DL,   RHAG4 (Rh null  regulator)  FORS1  Jr a  (Jr(a−))  Lan (Lan−)  Vel (Vel−)  CD59.1 (CD59.1−)  At a  (At(a−) AE1, Anion exchanger 1; AQP, aquaporin; C4, fourth component of complement; CGD, chronic granulomatous disease; CR1, complement receptor 1; CSF, colony-stimulating factor; CNS, central nerv










                         Component Name  Semaphorin 7A  Carbohydrate  Carbohydrate (Gb 4,   globoside)  AQP3  Rh-associated   glycoprotein  Carbohydrate  ATP-binding   cassette   sub-family G   member 2  ATP-binding   cassette   sub-family B   member 6,   mitochondrial  SMIM1  CD59 glycoprotein  Equilibrative   nucleoside   transporter 1







                      Predicted Topology   (Number of Amino   Acids [AA])  GPI-linked (656 AA)  N-acetyl-  glucosaminyl-  transferase type   II (400 AA)  N-acetyl-  galactosaminyl-  transferase type   II (331 AA)  Multipass—6 spans  (292 AA)  Multipass—12   spans (409 AA)  Type II (347 AA)  Type III – 6 spans   (655 AA)  Type III – 6 spans   (842 AA)  Type 1 (78 AA)  GPI-linked (128 AA)  Type III – 11 spans   (456 AA)







                         Gene Name  SEMA-L   (JMH)  GCNT2  B3GALT1  AQP3 (GIL)  RHAG  GBGT1  ABCG2  ABCB6  SMIM1  CD59  SLC29A1





                 TABLE   110.1  ISBT System   Name (Number)  JMH (026)  I (027)  Globoside   (028)  GIL (029)  RHAG (030)  FORS (031)  JR (032)  LAN (033)  VEL (034)  CD59 (035)  AUG  lupus erythematosus.
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