人类基因功能手册(下)

Ҏ㉏෎಴ࡳ㛑᠟ݠmt1a339mt1a䞥ሲ⸿㲟ⱑ1A(ࡳ㛑)metallothionein1A(functional)ߚᏗ:㒚㚲䋼⌏ᗻ:䪰⾏ᄤ㒧ড়|䫠⾏ᄤ㒧ড়|䬝⾏ᄤ㒧ড়|䞥ሲ⾏ᄤ㒧ড়15635016q13mt1b䞥ሲ⸿㲟ⱑ1B(ࡳ㛑)metallothionein1B(functional)ߚᏗ:㒚㚲䋼⌏ᗻ:䪰⾏ᄤ㒧ড়|䫠⾏ᄤ㒧ড়|䬝⾏ᄤ㒧ড়|䞥ሲ⾏ᄤ㒧ড়15634916q13mt1e䞥ሲ⸿㲟ⱑ1E(ࡳ㛑)metallothionein1E(functional)ߚᏗ:㒚㚲䋼⌏ᗻ:䪰⾏ᄤ㒧ড়|䫠⾏ᄤ㒧ড়|䬝⾏ᄤ㒧ড়|䞥ሲ⾏ᄤ㒧ড়15635116q13mt1f䞥ሲ⸿㲟ⱑ1F(ࡳ㛑)metallothionein1F(functional)ߚᏗ:㒚㚲䋼⌏ᗻ:䪰⾏ᄤ㒧ড়|䫠⾏ᄤ㒧ড়|䬝⾏ᄤ㒧ড়|䞥ሲ⾏ᄤ㒧ড়15635216q13mt1g䞥ሲ⸿㲟ⱑ1Gmetallothionein1G⌏ᗻ:䪰⾏ᄤ㒧ড়|䫠⾏ᄤ㒧ড়|䬝⾏ᄤ㒧ড়|䞥ሲ⾏ᄤ㒧ড়15635316q13mt1h䞥ሲ⸿㲟ⱑ1Hmetallothionein1H⌏ᗻ:䪰⾏ᄤ㒧ড়|㲟ⱑ㒧ড়|䫠⾏ᄤ㒧ড়|䬝⾏ᄤ㒧ড়|䞥ሲ⾏ᄤ㒧ড়15635416q13mt1m䞥ሲ⸿㲟ⱑ1Mmetallothionein1M⌏ᗻ:䪰⾏ᄤ㒧ড়|䫠⾏ᄤ㒧ড়|䬝⾏ᄤ㒧ড়|䞥ሲ⾏ᄤ㒧ড়15635716q13mt1x䞥ሲ⸿㲟ⱑ1Xmetallothionein1X⌏ᗻ:䪰⾏ᄤ㒧ড়|䫠⾏ᄤ㒧ড়|䬝⾏ᄤ㒧ড়|䞥ሲ⾏ᄤ㒧ড়খϢ:ᑨㄨ䞥ሲ⾏ᄤ15635916q13mt2a䞥ሲ⸿㲟ⱑ2Ametallothionein2A⌏ᗻ:䪰⾏ᄤ㒧ড়|䫠⾏ᄤ㒧ড়|䞥ሲ⾏ᄤ㒧ড়খϢ:䪰⾏ᄤ〇ᗕ15636016q13mt3䞥ሲ⸿㲟ⱑ3(⫳䭓ᡥࠊ಴ᄤ(⼲㒣㧹ݏ))metal-lothionein3(growthinhibitoryfactor(neurotrophic))ߚᏗ:さ㾺㝰⊵⌏ᗻ:䪕⾏ᄤ㒧ড়|䪰⾏ᄤ㒧ড়|䫠⾏ᄤ㒧ড়|ᡫ⇻࣪ࠖ|䞥ሲ⾏ᄤ㒧ড়খϢ:ᑨㄨ㔎⇻|⬉ᄤӴ䗦|䞥ሲ⾏ᄤ〇ᗕ|㒚㚲๲Ⅺ|⏙䰸,䍙⇻࣪⠽ḍ|䋳䇗᥻㒚㚲⫳䭓|䋳䇗᥻ᷥさᔶᗕথ⫳13925516q13mt4䞥ሲ⸿㲟ⱑIVmetallothioneinIVߚᏗ:㒚㚲䋼⌏ᗻ:䪰⾏ᄤ㒧ড়|䫠⾏ᄤ㒧ড়|䞥ሲ⾏ᄤ㒧ড়60620616q13mta1䕀⿏݇㘨1metastasisassociated1ߚᏗ:Ḍ⌏ᗻ:䕀ᔩ಴ᄤ|䫠⾏ᄤ㒧ড়|乎ᑣ⡍ᓖDNA㒧ড়|䞥ሲ⾏ᄤ㒧ড়খϢ:䇗᥻䕀ᔩ,DNAձ䌪|ֵো䕀ᇐ60352614q32.3mta2䕀⿏݇㘨1ᆊᮣ,៤ਬ2metastasisassociated1fam-ily,member2ߚᏗ:㒘㲟ⱑ㜅Э䝄䝊໡ড়ԧ|Ḍ⌏ᗻ:䕀ᔩ಴ᄤ|䫠⾏ᄤ㒧ড়|乎ᑣ⡍ᓖDNA㒧ড়|䞥ሲ⾏ᄤ㒧ড়খϢ:ᶧ㡆䋼㒘㺙៪ߚ㾷|䇗᥻䕀ᔩ,DNAձ䌪60394711q12-q13.1mta3䕀⿏݇㘨1ᆊᮣ,៤ਬ3metastasisassociated1fam-ily,member3ߚᏗ:Ḍ⌏ᗻ:䕀ᔩ಴ᄤ|䫠⾏ᄤ㒧ড়|乎ᑣ⡍ᓖDNA㒧ড়|䞥ሲ⾏ᄤ㒧ড়খϢ:䇗᥻䕀ᔩ,DNAձ䌪6090502p21mtac2d1㝰ᅮ৥(І㘨)৿C2ඳ1membranetargeting(tan-dem)C2domaincontaining1ߚᏗ:Ḍ|さ㾺㝰⊵|㝰⌏ᗻ:䕀䖤㲟ⱑখϢ:䖤䕧-14q32.12mtap⬆෎⸿㝎㣋⻋䝌࣪䝊methylthioadenosinephosphory-lase⌏ᗻ:⻋䝌࣪䝊|䕀⿏䝊,䕀⿏៞㊪෎|S⬆෎5⸿㝎௠ਸ⻋䝌࣪䝊খϢ:Ḍ㣋⺅෎,Ḍ㣋,Ḍ㣋䝌੠Ḍ䝌ҷ䇶1565409p21mtbpMdm2,䕀࣪3T3㒚㚲ঠߚ2,p53㒧ড়㲟ⱑ(ᇣ哴)㒧ড়㲟ⱑ,104kDaMdm2,transformed3T3celldoublemin-ute2,p53bindingprotein(mouse)bindingprotein,104kDa6059278q24.12mtch1㒓㉦ԧ䕑ԧৠ⑤⠽1(⾔Б㒓㰿)mitochondrialcar-rierhomolog1(C.elegans)ߚᏗ:㒚㚲ݙ|㝰|㵡ܹ㝰⌏ᗻ:㒧ড়|㲟ⱑ㒧ড়|PDZඳ㒧ড়খϢ:䖤䕧|䇗᥻ֵো䕀ᇐ|⼲㒣ܗ⾏ᄤ䗮䘧៤㇛-6pter-p24.1mtch2㒓㉦ԧ䕑ԧৠ⑤⠽2(⾔Б㒓㰿)mitochondrialcar-rierhomolog2(C.elegans)ߚᏗ:㒓㉦ԧ|㝰|㵡ܹ㝰⌏ᗻ:㒧ড়খϢ:䖤䕧-11p11.2mtcp1៤❳T㒚㚲๲Ⅺ1matureT-cellproliferation1ߚᏗ:㒓㉦ԧখϢ:䇗᥻䖯⿟ˈ㒚㚲਼ᳳ|㒚㚲๲Ⅺ300116Xq28mtdhᓖ㉬㲟ⱑmetadherinߚᏗ:Ḍ|ݙ䋼㔥|㝰|㵡ܹ㝰-8q22.1mte䞥ሲ⸿㲟ⱑEmetallothioneinE-16q13mterf㒓㉦ԧ䕀ᔩ㒜ℶ಴ᄤmitochondrialtranscriptionter-minationfactorߚᏗ:㒓㉦ԧ⌏ᗻ:DNA㒧ড়|ঠ䫒DNA㒧ড়|䕀ᔩ㒜ℶ಴ᄤখϢ:䕀ᔩ|䇗᥻䕀ᔩ,DNAձ䌪|RNA䕀ᔩ㒜ℶ㞾㒓㉦ԧਃࡼᄤ6023187q21-q22mterfd1৿MTERFඳ1MTERFdomaincontaining1-8q22.1mterfd2৿MTERFඳ2MTERFdomaincontaining2-2q37.3mterfd3৿MTERFඳ3MTERFdomaincontaining3-12q24.1mtf1䞥ሲ䇗᥻䕀ᔩ಴ᄤ1metal-regulatorytranscriptionfactor1ߚᏗ:Ḍ⌏ᗻ:䕀ᔩ಴ᄤ|䕀ᔩ䕙▔⌏㲟ⱑ|䫠⾏ᄤ㒧ড়|䞥ሲ⾏ᄤ㒧ড়খϢ:䕀ᔩ|䇗᥻䕀ᔩ㞾RNA㘮ড়䝊IIਃࡼᄤ|ᑨㄨ䞥ሲ⾏ᄤ6001721p33mtf2䞥ሲᑨㄨܗӊ㒧ড়䕀ᔩ಴ᄤ2metalresponseelementbindingtranscriptionfactor2ߚᏗ:Ḍ⌏ᗻ:Ḍ䝌㒧ড়|DNA㒧ড়|㲟ⱑ㒧ড়|䫠⾏ᄤ㒧ড়|䞥ሲ⾏ᄤ㒧ড়খϢ:䇗᥻䕀ᔩ,DNAձ䌪6098821p22.1mtfmt㒓㉦ԧ㲟⇼䝄tRNA⬆䝄䕀⿏䝊mitochondrialme-thionyl-tRNAformyltransferaseߚᏗ:㒓㉦ԧ⌏ᗻ:㲟⇼䝄tRNA⬆䝄䕀⿏䝊|⬆෎䕀⿏䝊|䕀⿏䝊খϢ:㲟ⱑ⫳⠽ড়៤|⫳⠽ড়៤-15q22.31mtfr1㒓㉦ԧ㺖Ⅺ䇗᥻಴ᄤ1mitochondrialfissionregula-tor1ߚᏗ:㒓㉦ԧ|䋼㝰-8q13.1mtg1㒓㉦ԧGTP䝊1ৠ⑤⠽(㢑Ⅺ䝉↡)mitochondrialGTPase1homolog(S.cerevisiae)ߚᏗ:㒚㚲ݙ⌏ᗻ:GTP㒧ড়-10q26.3mthfd1Ѯ⬆෎ಯ⇶৊䝌㜅⇶䝊(NADP+ձ䌪)1,⬆Ꮁಯ⇶৊䝌⦃࣪∈㾷䝊,⬆䝄ಯ⇶৊䝌ড়៤䝊methylenetetrahy-drofolatedehydrogenase(NADP+dependent)1,methenyltet-rahydrofolatecyclohydrolase,formyltetrahydrofolatesyn-thetaseߚᏗ:㒓㉦ԧ⌏ᗻ:Ḍ㣋䝌㒧ড়|⬆䝌ಯ⇶৊䝌䖲᥹䝊|⬆Ꮁಯ⇶৊䝌⦃࣪∈㾷䝊|Ѯ⬆෎ಯ⇶৊䝌㜅⇶䝊(NADP+)|ATP㒧ড়|⇻࣪䖬ॳ䝊|∈㾷䝊|䖲᥹䝊খϢ:㒘⇼䝌⫳⠽ড়៤|௠ਸḌ㣋䝌⫳⠽ড়៤|ϔ⺇࣪ড়⠽ҷ䇶|⇼෎䝌⫳⠽ড়៤|㲟⇼䝌⫳⠽ড়៤|⬆䝌੠㸡⫳⠽⫳⠽ড়៤⮙ব:⼲㒣ㅵ㔎䱋,↡㋏亢䰽,|ẬѠߚᵱ⌒17246014q24mthfd1lѮ⬆෎ಯ⇶৊䝌㜅⇶䝊(NADP+ձ䌪)1ḋmethyl-enetetrahydrofolatedehydrogenase(NADP+dependent)1-like⌏ᗻ:ڀ࣪|⬆䝌ಯ⇶৊䝌䖲᥹䝊|ATP㒧ড়খϢ:⬆䝌੠㸡⫳⠽⫳⠽ড়៤-6q25.1mthfd2Ѯ⬆෎ಯ⇶৊䝌㜅⇶䝊(NADP+ձ䌪)2,⬆Ꮁಯ⇶৊䝌⦃࣪∈㾷䝊methylenetetrahydrofolatedehydrogenase(NADP+dependent)2,methenyltetrahydrofolatecyclohy-drolaseߚᏗ:㒓㉦ԧ⌏ᗻ:䬕⾏ᄤ㒧ড়|⬆Ꮁಯ⇶৊䝌⦃࣪∈㾷䝊|Ѯ⬆෎ಯ⇶৊䝌㜅⇶䝊(NAD+)|Ѯ⬆෎ಯ⇶৊䝌㜅⇶䝊(NADP+)|⇻࣪䖬ॳ䝊|∈㾷䝊|⻋䝌㒧ড়খϢ:ϔ⺇࣪ড়⠽ҷ䇶|⬆䝌੠㸡⫳⠽⫳⠽ড়៤|ಯ⇶৊䝌ҷ䇶6048872p13.1mthfd2lѮ⬆෎ಯ⇶৊䝌㜅⇶䝊(NADP+ձ䌪)2ḋmethyl-enetetrahydrofolatedehydrogenase(NADP+dependent)2-like⌏ᗻ:ڀ࣪খϢ:⬆䝌੠㸡⫳⠽⫳⠽ড়៤-4q13.3mthfr5,10Ѯ⬆෎ಯ⇶৊䝌䖬ॳ䝊(NADPH)5,10-methylenetetrahydrofolatereductase(NADPH)⌏ᗻ:Ѯ⬆෎ಯ⇶৊䝌䖬ॳ䝊(NADPH)|㲟ⱑ㒧ড়|⇻࣪䖬ॳ䝊খϢ:⇼෎䝌ҷ䇶|㲟⇼䝌ҷ䇶|㸔⎆ᕾ⦃⮙ব:催㛅⇼䝌ሓ⮛಴MTHFR㔎䱋6070931p36.3mthfsҎ㉏෎಴ࡳ㛑᠟ݠ340mthfs5,10⬆Ꮁಯ⇶৊䝌ড়៤䝊(5⬆䝄ಯ⇶৊䝌⦃࣪䖲᥹䝊)5,10-methenyltetrahydrofolatesynthetase(5-formyl-tetrahydrofolatecyclo-ligase)ߚᏗ:㚲⌚⌏ᗻ:䬕⾏ᄤ㒧ড়|⬆䝌㒧ড়|䖲᥹䝊|5⬆䝄ಯ⇶৊䝌⦃࣪䖲᥹䝊খϢ:ҷ䇶|⬆䝌ҷ䇶60419715q25.1mthfsd৿⬆Ꮁಯ⇶৊䝌ড়៤䝊ඳmethenyltetrahydrofolatesynthetasedomaincontaining⌏ᗻ:Ḍ㣋䝌㒧ড়|Ḍ䝌㒧ড়|ڀ࣪খϢ:ҷ䇶-16q24.1mtif2㒓㉦ԧ㗏䆥ਃࡼ಴ᄤ2mitochondrialtranslationalinitiationfactor2ߚᏗ:㒚㚲ݙ|㒓㉦ԧ⌏ᗻ:Ḍ㣋䝌㒧ড়|㗏䆥ਃࡼ಴ᄤ|GTP㒧ড়খϢ:㲟ⱑ⫳⠽ড়៤|䇗᥻㗏䆥ਃࡼ6037662p14-p16mtif3㒓㉦ԧ㗏䆥ਃࡼ಴ᄤ3mitochondrialtranslationalinitiationfactor3⌏ᗻ:㗏䆥ਃࡼ಴ᄤখϢ:㗏䆥ਃࡼ-13q12.2mtl1䞥ሲ⸿㲟ⱑḋ1metallothionein-like1-1pmtl2䞥ሲ⸿㲟ⱑḋ2metallothionein-like2-1p22-qtermtl3䞥ሲ⸿㲟ⱑḋ3metallothionein-like3--mtl4䞥ሲ⸿㲟ⱑḋ4metallothionein-like4--mtl5䞥ሲ⸿㲟ⱑḋ5,ⵒЌ⡍ᓖ(tesmin)metallothionein-like5,testis-specific(tesmin)⌏ᗻ:䞥ሲ⾏ᄤ㒧ড়খϢ:䞥ሲ⾏ᄤ〇ᗕ|ᡫ㒚㚲ޟѵ|ᑨㄨ⇻࣪य़࡯|㊒ᄤথ⫳|ᑨㄨ䞥ሲ⾏ᄤ|㒚㚲ߚ࣪60437411q13.2-q13.3mtm䞥ሲ⸿㲟ⱑMmetallothioneinM-16q12.2mtm1㙠ᖂㅵ㋴1myotubularin1⌏ᗻ:㙠䝛៪⻋㛖䝄㙠䝛⻋䝌䝊|㲟ⱑϱ⇼䝌/㢣⇼䝌ᗻ⻋䝌䝊|㲟ⱑ䜾⇼䝌ᗻ⻋䝌䝊|∈㾷䝊খϢ:㲟ⱑ⇼෎䝌এ⻋䝌࣪|㙠থ㚆|⻋㛖এ⻋䝌࣪⮙ব:㙠ㅵᗻ㙠⮙,X䖲䫕300415Xq28mtmr1㙠ᖂㅵ㋴Ⳍ݇㲟ⱑ1myotubularinrelatedprotein1⌏ᗻ:㙠䝛៪⻋㛖䝄㙠䝛⻋䝌䝊|㲟ⱑϱ⇼䝌/㢣⇼䝌ᗻ⻋䝌䝊|㲟ⱑ䜾⇼䝌ᗻ⻋䝌䝊|∈㾷䝊খϢ:㲟ⱑ⇼෎䝌এ⻋䝌࣪|⻋㛖এ⻋䝌࣪300171Xq28mtmr10㙠ᖂㅵ㋴Ⳍ݇㲟ⱑ10myotubularinrelatedprotein10⌏ᗻ:㙠䝛៪⻋㛖䝄㙠䝛⻋䝌䝊খϢ:⻋㛖এ⻋䝌࣪-15q13.3mtmr11㙠ᖂㅵ㋴Ⳍ݇㲟ⱑ11myotubularinrelatedprotein11⌏ᗻ:㙠䝛៪⻋㛖䝄㙠䝛⻋䝌䝊খϢ:⻋㛖এ⻋䝌࣪-1q12-q21mtmr12㙠ᖂㅵ㋴Ⳍ݇㲟ⱑ12myotubularinrelatedprotein12⌏ᗻ:㙠䝛៪⻋㛖䝄㙠䝛⻋䝌䝊খϢ:⻋㛖এ⻋䝌࣪6065015p13.3mtmr2㙠ᖂㅵ㋴