Kromozom 11, toplamda 22 çift olan otozomal insan kromozomlarından onbirincisidir. İnsanlarda normalde bir çift halinde bulunur. 134,5 milyon baz çiftine ve toplam hücre DNA`sının %4 ya da %4,5`ine sahiptir. Kromozom 11, muhtemelen 1,300 ile 1,700 arasında gen içermektedir.
Genler
}Kromozom 11 üzerinde bulunan genlerden bazıları:
- ACAT1: acetyl-Coenzyme A acetyltransferase 1 (acetoacetyl Coenzyme A thiolase)
- ATM: ataxia telangiectasia mutated (includes complementation groups A, C and D)
- CPT1A: carnitine palmitoyltransferase 1A (liver)
- DHCR7: 7-dehydrocholesterol reductase
- HBB: hemoglobin, beta
- HMBS: hydroxymethylbilane synthase
- HRAS: v-Ha-ras Harvey rat sarcoma viral oncogene homolog
- KCNQ1: potassium voltage-gated channel, KQT-like subfamily, member 1 (mutation leads to ``sudden death``)
- MEN1: multiple endocrine neoplasia I
- MTMR2: myotubularin related protein 2
- MYO7A: myosin VIIA
- PAX6
- PTS: 6-pyruvoyltetrahydropterin synthase
- SAA1: serum amyloid A1
- SBF2: SET binding factor 2
- SMPD1: sphingomyelin phosphodiesterase 1, acid lysosomal (acid sphingomyelinase)
- TECTA: tectorin alpha (nonsyndromic deafness)
- USH1C: Usher syndrome 1C (autosomal recessive, severe)
Hastalıklar
Kromozom 11 üzerinde bulunan genlerle ilgili olan hastalıkların bazıları:- aniridia
- acute intermittent porphyria
- ataxia-telangiectasia
- beta-ketothiolase deficiency
- beta thalassemia
- bladder cancer
- breast cancer
- carnitine palmitoyltransferase I deficiency
- Charcot-Marie-Tooth disease
- Charcot-Marie-Tooth disease, type 4
- familial Mediterranean fever
- Jacobsen syndrome
- Jervell and Lange-Nielsen syndrome
- Meckel syndrome
- methemoglobinemia, beta-globin type
- multiple endocrine neoplasia type 1
- Niemann-Pick disease
- nonsyndromic deafness
- nonsyndromic deafness, autosomal dominant
- nonsyndromic deafness, autosomal recessive
- porphyria
- Romano-Ward syndrome
- sickle cell anemia
- Smith-Lemli-Opitz syndrome
- tetrahydrobiopterin deficiency
- Usher syndrome
- Usher syndrome type I
- WAGR syndrome
}