Chromosome 9 (human)

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Chromosome 9 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 9 spans about 145 million base pairs of nucleic acids (the building blocks of DNA) and represents between 4 and 4.5 percent of the total DNA in cells.

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 9 likely contains between 800 and 1,200 genes.

[edit] Genes

The following are some of the genes located on chromosome 9:

ABO: ABO histo-blood group glycosyltransferases
ADAMTS13: ADAM metallopeptidase with thrombospondin type 1 motif, 13
ALAD: aminolevulinate, delta-, dehydratase
ALS4: amyotrophic lateral sclerosis 4
ASS: argininosuccinate synthetase
CCL21: chemokine (C-C motif) ligand 21, SCYA21
CCL27: chemokine (C-C motif) ligand 27, SCYA27
COL5A1: collagen, type V, alpha 1
ENG: endoglin (Osler-Rendu-Weber syndrome 1)
FXN: frataxin
GALT: galactose-1-phosphate uridylyltransferase
GRHPR: glyoxylate redasductase/hydroxypyruvate reductase
IKBKAP: inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
TMC1: transmembrane channel-like 1
TSC1: tuberous sclerosis 1

[edit] Diseases & disorders

The following diseases are some of those related to genes on chromosome 9:

ALAD deficiency porphyria
amyotrophic lateral sclerosis (ALS)
citrullinemia
Ehlers-Danlos syndrome
Ehlers-Danlos syndrome, classical type
familial dysautonomia
Friedreich ataxia
galactosemia
Gorlin syndrome or Nevoid Basal Cell Carcinoma syndrome
hereditary hemorrhagic telangiectasia
Nail-patella syndrome (NPS)
nonsyndromic deafness
nonsyndromic deafness, autosomal dominant
nonsyndromic deafness, autosomal recessive
porphyria
primary hyperoxaluria
thrombotic thrombocytopenic purpura
tuberous sclerosis

[edit] References

Gilbert F, Kauff N (2001). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 9". Genet Test 5 (2): 157–74. doi:10.1089/109065701753145664. PMID 11551106.

Humphray SJ, Oliver K, Hunt AR, et al. (2004). "DNA sequence and analysis of human chromosome 9". Nature 429 (6990): 369–74. doi:10.1038/nature02465. PMID 15164053.

Wicking C, Berkman J, Wainwright B (1994). "Fine genetic mapping of the gene for nevoid basal cell carcinoma syndrome. Chromosome 9". Genomics 22 (3): 505–11. doi:10.1006/geno.1994.1423. PMID 8001963.