Chromosome 11 (human)

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Chromosome 11 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 11 spans about 134.5 million base pairs (the building material of DNA) and represents between 4 and 4.5 percent of the total DNA in cells. It is one of the most gene- and disease-rich chromosomes in the human genome.

Identifying genes on each chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 11 likely contains between 1,300 and 1,700 genes.

A recent study ^[1] shows that 11.6 genes per megabase, including 1,524 protein-coding genes and 765 pseudogenes can be found on chromosome 11.

More than 40% of the 856 olfactory receptor genes in the human genome are located in 28 single- and multi-gene clusters along this chromosome.

[edit] Genes

The following are some of the genes located on chromosome 11:

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)

[edit] Diseases

The following diseases are some of those related to genes on chromosome 11:

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

[edit] References

^ Taylor TD, Noguchi H, Totoki Y, Toyoda A, Kuroki Y, Dewar K, Lloyd C, Itoh T, Takeda T, Kim DW, She X, Barlow KF, Bloom T, Bruford E, Chang JL, Cuomo CA, Eichler E, FitzGerald MG, Jaffe DB, LaButti K, Nicol R, Park HS, Seaman C, Sougnez C, Yang X, Zimmer AR, Zody MC, Birren BW, Nusbaum C, Fujiyama A, Hattori M, Rogers J, Lander ES, Sakaki Y (2006). "Human chromosome 11 DNA sequence and analysis including novel gene identification". Nature 440 (7083): 497-500. PMID 16554811.