Kromosom 3 (mennesket)

Kromosom 3 er et af menneskets 23 kromosompar, og menneskets celler indeholder sædvanligvis to kopier af dette kromosom. Kromosom 3 omfatter mere end 198 millioner basepar  (DNA's byggesten) og repræsenterer omkring 6.5% af det samlede DNA i cellerne.

Identificering af generne på hvert kromosom er et aktivt område inden for genforskningen. Eftersom forskerne benytter forskellige metoder til at anslå antallet af gener på hvert kromsom, findes der varierende angivelser af antallet. Kromosom 3 indeholder sandsynligvis i omegnen af 1.026  til 1.085 protein kodende gener.

Gener
De følgende gener findes på kromosom 3:

p-arm
De følgende er nogle af de gener der findes på p-armen (den korte arm) af det mennesklige kromosom 3:
 ALAS1: aminolevulinate, delta-, synthase 1
 APEH: kodende enzym Acylamino-acid-releasing enzym
 ARPP-21: Cyclic AMP-regulerende phosphoprotein, 21 kDa
 AZI2: kodende protein 5-azacytidine-induced protein 2
 BRK1: SCAR/WAVE actin nucleating complex subunit
 BRPF1: bromodomain og PHD finger containing 1
 BTD: biotinidase
 C3orf60/NDUFAF3: kodende enzym NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3
 CACNA2D3: calcium channel, voltage-dependent, alpha 2/delta subunit 3
 CCR5: chemokine (C-C motif) receptor 5
 CGGBP1: CGG triplet repeat binding protein 1
 CNTN4: Contactin 4
 COL7A1: Collagen, type VII, alpha 1 (epidermolysis bullosa, dystrophic, dominant og recessive)
 DCLK3: Doublecortin like kinase 3
 EAF1: ELL associated factor 1
 ENTPD3: ectonucleoside triphosphate diphosphohydrolase 3
 FBXL2: F-box og leucine rich repeat protein 2
 FOXP1: Forkhead Box Protein P1
 GMPPB: GDP-mannose pyrophosphorylase B
 HEMK1: kodende protein HemK methyltransferase family member 1
 HIGD1A: HIG1 domain family member 1A
 LARS2: leucyl-tRNA synthetase, mitochondrial
 LIMD1: LIM domain-containing protein 1
 MITF: microphthalmia-associated transcription factor
 MLH1: mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
 MYRIP: Myosin VIIA og Rab interacting protein
 NBEAL2: Neurobeachin-like 2
 NKTR: NK-tumor recognition protein
 NPRL2: Nitrogen permease regulator 2-like protein
 OXTR: oxytocin receptor
 PTHR1: parathyroid hormone receptor 1
 QRICH1: kodende protein QRICH1, also known as Glutamine-rich protein 1,
 RBM6: RNA-binding protein 6
 RPP14: Ribonuclease P protein subunit p14
 SCN5A: sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)
 SETD5: SET domain containing 5
 SFMBT1: Scm-like with four mbt domains 1
 SLC25A20: solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
 STT3B: catalytic subunit of the oligosaccharyltransferase complex
 SYNPR: synaptoporin
 TDGF1: Teratocarcinoma-derived growth factor 1
 TMEM158: Transmembrane protein 158
 TMIE: transmembrane inner ear
 TRAK1: trafficking kinesin-binding protein 1
 TRANK1: kodende protein Tetratricopeptide repeat og ankyrin repeat containing 1
 TUSC2: tumor suppressor candidate 2
 UCN2: Urocortin-2
 VGLL3: vestigial-like family member 3
 VHL: von Hippel-Lindau tumor suppressor
 ZMYND10: zinc finger MYND-type containing 10
 ZNF502: kodende protein Zinc finger protein 502
 ZNF621: kodende protein Zinc finger protein 621

q-arm
De følgende er nogle af de gener der findes på q-armen (den lange arm) af det mennesklige kromosom 3:
 ADIPOQ: adiponectin
 AMOTL2: kodende protein Angiomotin-like protein 2
 ARHGAP31: Rho GRPase activating protein 31
 CAMPD1: Camptodactyly
 CCDC80: Coiled-coil domain containing protein 80
 CD200R1: Cell surface glycoprotein CD200 receptor 1
 CLDND1: Claudin domain containing 1
 CPN2: Carboxypeptidase N subunit 2
 CPOX: coproporphyrinogen oxidase (coproporphyria, harderoporphyria)
 DPPA2: Developmental pluripotency associated 2
 EAF2: ELL associated factor 2
 EFCC1: EF-hand og coiled-coil domain containing 1
 ETM1: Essential tremor 1
 ETV5: ETS variant 5
 FAM43A: family with sequence similarity 43 member A
 FAM162A: family with sequence similarity 162 member A
 GYG1: Glycogenin-1
 HGD: homogentisate 1,2-dioxygenase (homogentisate oxidase)
 IFT122: intraflagellar transport gene 122
 KIAA1257: KIAA1257
 LMLN: kodende protein Leishmanolysin-like (metallopeptidase M8 family)
 LRRC15: leucine rich repeat containing 15
 LSG1: large subunit GTPase 1 homolog
  MB21D2: kodende protein Mab-21 domain containing 2
 MCCC1: methylcrotonoyl-Coenzym A carboxylase 1 (alpha)
 MYLK: Telokin
 NFKBIZ: NF-kappa-B inhibitor zeta
 PCCB: propionyl Coenzym A carboxylase, beta polypeptide
 PDCD10: programmeret cell død 10
 PIK3CA: phosphoinositide-3-kinase, catalytic, alpha polypeptide
 PROSER1: Proline og serine rich protein 1
 RAB7: RAB7, member RAS oncogene family
 RETNLB: resistin-like beta
 RHO: rhodopsin visual pigment
 RIOX2: Ribosomal oxygenase 2
 SELT: Selenoprotein T
 SENP7: Sentrin-specific protease 7
 SERP1: Stress-associated endoplasmic reticulum protein 1
 SOX2: transcription factor
 SOX2OT: SOX2 overlapende transcript
 SRPRB: Signal recognition particle receptor subunit beta
 TM4SF1: Transmembrane 4 L6 family member 1
 TRAT1: T-cell receptor-associated transmembrane adapter 1
 USH3A: Usher syndrome 3A
 ZBED2: kodende protein Zinc finger BED-type containing 2
 ZNF9: zinc finger protein 9 (a cellular retroviral nucleic acid binding protein)

Relaterede sygdomme og uregelmæssigheder 
Nedenstående sygdomme har sammenhæng med varianter i gener, som hører til kromosom 3:

Kilder 

Kromosomer
Homo sapiens