AnionexchangeproteinsSLC4A1 (AE1):Erythrocyteband3proteinMajor integral glycoprotein in erythrocyte membrane·Polymorphisms determine Diego blood groupDiseases:Spherocytosis;Ovalocytosis;Renaltubularacidosis;HypokalemicperiodicparalysisOtherSLC4A2:Anionexchanger;Choroidplexus,Gl&OtherSLC4A3:Anionexchanger;Cardiac&BrainSLC4A4:NaBicarbonatecotransporter;Renal;Renaltubularacidosis,glaucoma,cataracts,&band keratopathySLC4A5:NaBicarbonatecotransporter;PancreasSLC4A6:NaBicarbonatecotransporter;Retina
Anion exchange proteins SLC4A1 (AE1): Erythrocyte band 3 protein Major integral glycoprotein in erythrocyte membrane Polymorphisms determine Diego blood group Diseases: Spherocytosis; Ovalocytosis; Renal tubular acidosis; Hypokalemic periodic paralysis Other SLC4A2: Anion exchanger; Choroid plexus, GI & Other SLC4A3: Anion exchanger; Cardiac & Brain SLC4A4: Na Bicarbonate cotransporter; Renal; Renal tubular acidosis, glaucoma, cataracts, & band keratopathy SLC4A5: Na Bicarbonate cotransporter; Pancreas SLC4A6: Na Bicarbonate cotransporter; Retina
Anion exchange proteinsOtherSLC17A5(Sialin):Salla syndrome(Sialicacid storage)SLC26A3:Down-regulatedinadenoma(DRA)SulfatetransporterCongenitalchloridediarrheaSLC26A4:TransporterofChloride&lodideNon-syndromic deafness, congenital (DFNB4)PendredsyndromeEnlargedvestibularaqueductsyndrome
Anion exchange proteins Other SLC17A5 (Sialin): Salla syndrome (Sialic acid storage) SLC26A3: Down-regulated in adenoma (DRA) Sulfate transporter Congenital chloride diarrhea SLC26A4: Transporter of Chloride & Iodide Non-syndromic deafness, congenital (DFNB4) Pendred syndrome Enlarged vestibular aqueduct syndrome
Voltagedependentanionselectivechannelproteins(VDAC)Location:Outer mitochondrial membrane,inner mitochondrialmembrane,plasmamembraneFunctionsChannelsforsmallhydrophilicmoleculesTranslocationofadeninenucleotidesthroughoutermitochondrialmembraneBCL2proteinsbindtoVDAC:Regulatemitochondrialmembranepotential &releaseof cytochromecduringapoptosisMitochondrial binding sitefor:Hexokinase(HK1);Glycerolkinase
Voltage dependent anion selective channel proteins (VDAC) Location: Outer mitochondrial membrane, inner mitochondrial membrane, plasma membrane Functions Channels for small hydrophilic molecules Translocation of adenine nucleotides through outer mitochondrial membrane BCL2 proteins bind to VDAC: Regulate mitochondrial membrane potential & release of cytochrome c during apoptosis Mitochondrial binding site for: Hexokinase (HK1); Glycerol kinase
VDACVDAC1Pathwayformovementofadeninenucleotidesthroughoutermitochondrial membraneMitochondrial binding site forhexokinase and glycerol kinaseVDAC2Openconformation:Atloworzeromembranepotential;WeakanionselectivityClosedconformation:Atpotentialsabove 30-4o mV;Cation-selectiveVDAC3Highexpressionintestis●NullmiceSpermmotility:ReducedMuscle:Mitochondriaabnormallyshaped,Respiratorychaincomplex activityreducedVDAC4
VDAC VDAC1 Pathway for movement of adenine nucleotides through outer mitochondrial membrane Mitochondrial binding site for hexokinase and glycerol kinase VDAC2 Open conformation: At low or zero membrane potential; Weak anion selectivity Closed conformation: At potentials above 30-40 mV; Cationselective VDAC3 High expression in testis Null mice Sperm motility: Reduced Muscle: Mitochondria abnormally shaped, Respiratory chain complex activity reduced VDAC4
AniontransporterOrganicaniontransporter(OATP)Nat-independent transport of organic anions,e.g.bileacidsCanalicular multispecific organic aniontransporter(CMOAT)Dubin-JohnsonSyndromeSulfateaniontransporter
Anion transporter Organic anion transporter (OATP) Na +-independent transport of organic anions, e.g. bile acids Canalicular multispecific organic anion transporter (cMOAT) Dubin-Johnson Syndrome Sulfate anion transporter