Chromosome 9 (human)

Overview

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.

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

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

References

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

• Humphray SJ, Oliver K, Hunt AR; et al. (2004). "DNA sequence and analysis of human chromosome 9". Nature. 429 (6990): 369–74. PMID 15164053.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)

• 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. PMID 8001963.CS1 maint: Multiple names: authors list (link)