Chromosome 9 (human)

Chromosome 9 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome, as they normally do with all chromosomes. 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.

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
• GLE1L: Nucleoporin GLE1
• GRHPR: glyoxylate redasductase/hydroxypyruvate reductase
• IKBKAP: inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
• TGFBR1: transforming growth factor beta, receptor type I
• TMC1: transmembrane channel-like 1
• TSC1: t

Diseases & disorders

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

• acytosiosis
• ALA-D deficiency porphyria
• 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
• lethal congenital contracture syndrome
• Nail-patella syndrome (NPS)
• nonsyndromic deafness
• nonsyndromic deafness, autosomal dominant
• nonsyndromic deafness, autosomal recessive
• OCD
• porphyria
• primary hyperoxaluria
• Tangier's disease
• tetrasomy 9p
• thrombotic thrombocytopenic purpura
• trisomy 9
• tuberous sclerosis
• VLDLR-associated cerebellar hypoplasia

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. PMC 2734081. PMID 15164053. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2734081. 

• 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. 

• Mäkelä-Bengs P, Järvinen N, Vuopala K, Suomalainen A, Palotie A, Peltonen L (1997). "The assignment the lethal congenital contracture syndrome (LCCS) locus to chromosome 9q33-34". Am. J. Hum. Genet. 61 (suppl): A30.