Chromosome 11 (human)

Chromosome 11000 is one of the 23 pairs of chromosomes in humans. Humans 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.

Genes

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

• ACAT1: acetyl-Coenzyme A acetyltransferase 1 (acetoacetyl Coenzyme A thiolase)
• APOA4: apolipoprotein A-IV
• ATM: ataxia telangiectasia mutated (includes complementation groups A, C and D)
• CD81
• WT1
• C11orf1
• CPT1A: carnitine palmitoyltransferase 1A (liver)
• DHCR7: 7-dehydrocholesterol reductase
• HBB: hemoglobin, beta
• HMBS: hydroxymethylbilane 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)
• TH: tyrosine hydroxylase
• USH1C: Usher syndrome 1C (autosomal recessive, severe)

Diseases & disorders

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

• autism (neurexin 1) ^[2]
• aniridia
• acute intermittent porphyria
• albinism
• ataxia-telangiectasia
• Beckwith-Wiedemann syndrome
• Best's disease
• beta-ketothiolase deficiency
• beta thalassemia
• bladder cancer
• breast cancer
• carnitine palmitoyltransferase I deficiency
• Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease, type 4
• Denys-Drash syndrome
• familial Mediterranean fever
• Hereditary angioedema OMIM: 106100
• Jacobsen syndrome
• Jervell and Lange-Nielsen syndrome
• Meckel syndrome
• methemoglobinemia, beta-globin type
• Mixed Lineage Leukemia
• multiple endocrine neoplasia type 1
• Hereditary Multiple Exostoses
• Niemann-Pick disease
• nonsyndromic deafness
• nonsyndromic deafness, autosomal dominant
• nonsyndromic deafness, autosomal recessive
• porphyria
• Romano-Ward syndrome
• Sickle cell anemia^[3]
• Smith-Lemli-Opitz syndrome
• tetrahydrobiopterin deficiency
• Usher syndrome
• Usher syndrome type I
• WAGR syndrome

References

• Gilbert F (2000). "Disease genes and chromosomes: disease maps of the human genome". Genet Test 4 (4): 409–26. doi:10.1089/109065700750065180. PMID 11216668.