Azoospermie

Einige Männer haben Azoospermie.

Some men experience azoospermia.

*ATP6V0B*ATP6V0C*ATP6V1E*ATP6V1F*ATP6V1G1==== Lysosom ====*CTSD, baut in Hepatozyten Insulin ab*Cystatin B, schützt vermutlich die Zelle vor undichten Lysosomen*LAMP1*Mannose-6-phosphat-Rezeptor*SGSH, Mutationen können das Sanfilippo-Syndrom erzeugen==== Proteasom ====*PSMB1*PSMB2*PSMB4*PSMB6*PSMA7*PSMB7*PSMD8*PSMD11*PSME2*UBA1*Ubiquitin B*UBE2I*UBE2D2*UBE2M*USP11==== Ribonuklease ====*RNH Ribonuklease-Hemmstoff==== Oxidase/Reduktase ====*TXN Thioreduktase=== Strukturelle Proteine ======= Zytoskelett ====*Actinin alpha 4*ACTG1 gamma-Aktin*ADD1*ANXA6*ARPC4 "Actin-related protein 2/3 complex"*Beta-Aktin*CAPZB*COL6A1*DNCL1 Cytoplasmic Dynein*EZR Ezrin (verankert Aktin in der Zellmembran)*KIFC3 kinesin*Moesin*MYH9 "Myosin, heavy chain 9"*RHOA vermutlich am Zellzyklus beteiligt*SEPT1 homolog zu CDC10 in "S. cerevesiae"*SEPT2*SLC9A3R2 bindet SLC9A3 an das Zytoskelett*TAGLN*TAGLN2*TMSB10 Thymosin ?10*TUBB Tubulin, beta-Polypeptid*TUBB4*WDR1==== Organellsynthese ====Eine spezielle Form der Zellsignalisierung*BLOC1S1*AP2M1*ANXA2*ANXA6*ANXA7*AP1B1 Endozytose*CLTA Clathrin A (Vesikel)*CLTB Clathrin B (Vesikel)*GP2 enzymatische sekretorische Granula (v. a. im Pankreas)*KDELR1 KDEL-Rezeptor bindet ER-Proteine==== Mitochondrium ====*MTX1=== Zelloberfläche ===*AP2S1*CD81*GPAA1*LGALS9*MGAT1*VAMP3==== Zelladhäsion ====*ADAM15*Beta-catenin*CNTN1 Contactin*Delta-catenin==== Kanäle und Transporter ====*ABCG2 früher BCRP1 xenobiotic transporter, gering exprimiert*CALM1 Calmodulin bindet Calciumionen*CALM2 Calmodulin bindet Calciumionen*HPCAL1 bindet Calciumionen; exprimiert v. a. in der Retina*GRIK5*MFSD10 aka TETRAN or tetracycline transporter-like protein*TFRC Transferrinrezeptor*FOLR1 Folatrezeptor*SLC25A11 mitochondrialer Oxoglutarat/Malat-Transporter==== Rezeptoren ====*ACVRL1 TGF-?-Rezeptorfamilie (Morbus Osler)*CD23A FCER2 low affinity IgE receptor (Lectin)*GRM4 metabotoper Glutamatrezeptor*JAG1 NOTCH2-Rezeptor "assoziiert mit dem Alagille-Syndrom"*MC2R Melanocortin-2-Rezeptor (ähnlich dem ACTH-Rezeptor)*SSTR5 Somatostatin-Rezeptor; neigt dazu, andere Hormone hemmen==== HLA, Immunoglobuline und Zellerkennung ====*BAT1*BSG Basigin-Immunglobulin-Superfamilie, extrazelluläre Metalloproteinase*B2M ?2-Mikroglobulin*HLA-C*HLA-G*MIF Macrophagenmigration inhibierender Faktor*TAPBP=== Kinasen und Signaltransduktion ===*ADRBK1 mindert die Reaktion auf Epinephrin*AGPAT1 3-Phosphoglycerol-Acyltransferase*ARF1*ARF3*ARF4*ARF5*ARL2 RAS-Superfamilie*CSF1 Koloniestimulierender Faktor, gering exprimiert*CSK C-src tyrosine kinase*DCT Dopachrom-Tautomerase*EFNA3*FKBP1A*GDI1 GDI-Dissoziationsinhibitor (Rab-Familie)*GNAS1 ubiquitär exprimiert, aber differentielles Imprinting*GNAI2*HAX1 assoziiert mit Tyrosinkinasen*ILK Integrin linked kinase*MAPKAPK2*MAP2K2*MAP3K11*PITPNM Phosphatidylinositol-Transfer-Proteine*RAC1 Rho-GTPase*RAP1B GTPase, beteiligt an der Zelladhäsion*RAGA Ras-verwandtes GTP-bindendes Protein*STK19*STK24 Serin/Threonin-Kinase*STK25*YWHAB Tyrosin-3-Monooxygenase/Tryptophan-5-Monooxygenase aktivierendes Protein, ?-Polypeptid*YWHAH Tyrosin-3-Monooxygenase/Tryptophan-5-Monooxygenase aktivierendes Protein, h-Polypeptid*YWHAQ Tyrosin-3-Monooxygenase/Tryptophan-5-Monooxygenase aktivierendes Protein, ?-Polypeptid*YWHAZ Tyrosin-3-Monooxygenase/Tryptophan-5-Monooxygenase aktivierendes Protein, ?-Polypeptid==== Wachstumsfaktoren ====*AIF1*HDGF Hepatom-abgeleiteter Wachstumsfaktor (transloziert zum Zellkern)*HGS*LTBP4*VEGFB*ZFP36L1==== Gewebe-Nekrose-Faktoren ====*CD40 früher TNFRSF5==== Caseinkinasen ====*CSNK1E*CSNK2B=== Verschiedenes ===*ALAS1 ?-Aminolävulinatsynthase Typ 1 (Typ 2 ist erythroid und mit Porphyrie assoziiert)*ARHGEF2 Guanin-Nukleotid-Austauschfaktor*ARMET Mesencephalere Astrozyten-abgeleiteter neurotropher Faktor*AES Amino-terminal Enhancer of Split*BECN1 beteiligt an der Autophagie*BUD31 früher Maternal G10 transcript*Creatine kinase CKB (ATP-Reservoir)*Cytidine deaminase*CPNE1*ENSA (gene)*FTH1 Ferritin schwere Kette*GDI2 rab/ras vesikulärer Transport*GUK1 Guanylatkinase*HPRT Hypoxanthine-guanine phosphoribosyltransferase*IFITM1 "Induced by interferon, transmembrane protein"*JTB (gene) Jumping translocation breakpoint*MMPL2*NME2 (früher NM23B) Nukleosid-Diphosphat-Kinase*NONO*P4HB*PRDX1 Peroxiredoxin (reduziert Peroxide)*PTMA Prothymosin*RPA2 Bindet DNA während der Replikation und streckt sie*SULT1A3 Sulfotransferase*SYNGR2 Synaptogyrin (nimmt möglicherweise an der Vesikeltranslokation teil)*Tetratricopeptide, TTC1 "small glutamine rich tetratricopeptide"==== Offene Leseraster ====*C11Orf13*C14orf2*C21orf33==== Begrenzt auf Spermien oder Hoden ====*SPAG7*SRM Spermidinsynthase*TEGT Bax-Inhibitor 1*DAZAP2 Gendeletion im Fall von Azoospermie*MEA1 Male Enhanced Antigen 1== Einzelnachweise ==

====Organelle Synthesis===="A specialized form of cell signaling"*BLOC1S1*BLOC1S2NM_173809*BLOC1S3NM_212550*BLOC1S4NM_018366*BLOC1S6NM_012388*AP1G1 NM_001128*AP1M1 NM_032493*AP2A1 NM_014203*AP2A2 NM_012305*AP2M1*AP2S1 NM_004069*AP3B1 NM_003664*AP3D1 NM_003938*AP3M1 NM_012095*AP3S1 NM_001284*AP3S2 NM_005829*AP4B1 NM_006594*AP5M1 NM_018229*ANXA6 Annexin 6*ANXA7 Annexin 7*AP1B1 Coated vessicles*CLTA Clathrin A (vessicles)*CLTB Clathrin B (vessicles)*CLTC====Mitochondrion====*MTX2===Surface===*AP2S1*CD81*GPAA1*LGALS9*MGAT2*MGAT4B*VAMP3====Cell Adhesion====*CTNNA1 NM_001903*CTNNB1*CTNNBIP1 NM_020248*CTNNBL1 NM_030877*CTNND1 NM_001085458 delta catenin====Channels and Transporters====*ABCB10 NM_012089*ABCB7 NM_004299*ABCD3 NM_002857*ABCE1 NM_002939*ABCF1 NM_001090*ABCF2 NM_005692*ABCF3 NM_018358*CALM1 Calmodulin grasps calcium ions*MFSD11 NM_024311 similar to MSFD10 aka TETRAN or tetracycline transporter-like protein*MFSD12 NM_174983*MFSD3 NM_138431*MFSD5 NM_032889*SLC15A4 NM_145648*SLC20A1 NM_005415*SLC25A11 mitochondrial oxoglutarate/malate carrier*SLC25A26 NM_173471*SLC25A28 NM_031212*SLC25A3 NM_002635*SLC25A32 NM_030780*SLC25A38 NM_017875*SLC25A39 NM_016016*SLC25A44 NM_014655*SLC25A46 NM_138773*SLC25A5 NM_001152*SLC27A4 NM_005094*SLC30A1 NM_021194*SLC30A5 NM_022902*SLC30A9 NM_006345*SLC35A2 NM_005660*SLC35A4 NM_080670*SLC35B1 NM_005827*SLC35B2 NM_178148*SLC35C2 NM_015945*SLC35E1 NM_024881*SLC35E3 NM_018656*SLC35F5 NM_025181*SLC38A2 NM_018976*SLC39A1 NM_014437*SLC39A3 NM_144564*SLC39A7 NM_006979*SLC41A3 NM_017836*SLC46A3 NM_181785*SLC48A1 NM_017842====Receptors====*ACVR1 NM_001105 similar to ACVRL1 TGF Beta receptor family "Rendu-Osler-Weber syndrome"*ACVR1B NM_004302*CD23 FCER2 low affinity IgE receptor (lectin)====HLA/Immunoglobulin/Cell recognition====*BAT1 aka DDX39B which is involved in RNA splicing*BSG Basigin Immunoglobulin Superfamily, extracelluar metalloproteinase*MIF macrophage migration inhibitory factor*TAPBP===Kinases/Signalling===*ADRBK1 can downregulate response to epinephrine*AGPAT1 acyl 3 phosphoglycerol acyl transferase*ARF1*ARF3*ARF4*ARF5*ARL2 RAS Superfamily*CSF1 Colony stimulating factor "not highly expressed constitutively at 5-12"*CSK C-src tyrosine kinase*DCT dopachrome tautomerase*EFNA3*FKBP1A*GDI1 GDP Dissociation inhibitor (Rab family)*GNAS1 ubiquitously expressed, but differentially imprinted*GNAI2*HAX1 associated with tyrosine kinases*ILK Integrin linked kinase*MAPKAPK2*MAP2K2*MAP3K11*PITPNM Phosphatidylinositol transfer protein*RAC1 Ro GTPase involved with many signaling pathways*RAP1B GTPase involved with cell adhesion*RAGA Ras-related GTP Binding*STK19*STK24 Serine/Threonine Kinase*STK25*YWHAB Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide*YWHAH Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, h polypeptide*YWHAQ Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide*YWHAZ Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide====Growth Factors====*AIF1*HDGF Hepatoma derived growth factor "(translocates to nucleus)"*HGS*LTBP4*VEGFB*ZFP36L1====Tissue Necrosis Factor====*CD40 formerly TNFRSF5====Casein Kinase====*CSNK1E*CSNK2B===Miscellaneous===*ALAS1 Aminolevulinic Acid Synthase type 1 (type 2 is erythroid and associated with porphyria)*ARHGEF2 Rho guanine nucleotide exchange factor*ARMET Mesencephalic astrocyte-derived neurotrophic factor*AES amino terminal enhancer of split*BECN1 involved in autophagy and partners with PI3K*BUD31 formerly Maternal G10 transcript*Creatine kinase CKB (ATP reservoir)*Cytidine deaminase "questionable: not present in very high levels at all"*CPNE1*ENSA (gene)*FTH1 Heavy chain of Ferritin*GDI2 rab/ras vessicular trafficking*GUK1 Guanylate kinase transfers phosphate from ATP to GMP*HPRT Hypoxanthine-guanine phosphoribosyltransferase*IFITM1 "Induced by interferon, transmembrane protein"*JTB (gene) Jumping translocation breakpoint*MMPL2*NME2 (formerly NM23B) Nucleoside diphosphate kinase*NONO*P4HB*PRDX1 peroxiredoxin (reduces peroxides)*PTMA Prothymosin*RPA2 Binds DNA during replication to keep it straightened out*SULT1A3 Sulfate conjugation "(note: SULT1C is cited in earlier literature as being ubiquitous but this may be an example of different tags being used to refer to a common area of 2 closely related genes.

Bei männlichen Patienten wurde über Impotenz, Sterilität, Azoospermie und Hodenatrophie berichtet.

Impotence, sterility, azoospermia, and testicular atrophy have been reported in male patients.