Chromosome 17 (human)

Chromosome 17 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 17 spans more than 81 million base pairs (the building material of DNA) and represents between 2.5 and 3% 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 17 likely contains between 1,200 and 1,500 genes. It also contains the Homeobox B gene cluster.

Genes

The following are some of the genes located on chromosome 17:

• ACADVL: acyl-coenzyme A dehydrogenase, very long chain
• ACTG1: actin, gamma 1
• ASPA: aspartoacylase (Canavan disease)
• BRCA1: breast cancer 1, early onset
• CBX1: chromobox homolog 1
• COL1A1: collagen, type I, alpha 1
• CTNS: cystinosin, the lysosomal cystine transporter
• ERBB2 loca leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)
• FLCN: folliculin
• GALK1: galactokinase 1
• GFAP: glial fibrillary acidic protein
• KCNJ2: potassium inwardly-rectifying channel, subfamily J, member 2
• MAPT gene coding for encoding tau protein
• MYO15A: myosin XVA
• NF1: neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)
• NOG: Noggin protein
• PMP22: peripheral myelin protein 22
• RPS6KB1 or S6K: Ribosomal protein S6-kinase
• SHBG: Sex hormone binding globulin
• SLC4A1: Band 3 anion transporter protein. Solute carrier family 4, member 1
• SLC6A4: Serotonin transporter
• TMC6 and TMC8: Transmembrane channel-like 6 and 8 (epidermodysplasia verruciformis)
• TP53: tumor suppressor protein p53 (Li-Fraumeni syndrome), tumor suppressor gene
• USH1G: Usher syndrome 1G (autosomal recessive)
• RAI1: retinoic acid induced 1
• RARA or RAR-alpha: Retinoic acid receptor Alpha (involved in t(15,17) with PML)
• RHBDF2: Rhomboid family member 2
• GRB7: Growth factor Receptor-Bound protein 7
• Several CC chemokines: CCL1, CCL2, CCL3, CCL4, CCL5, CCL7, CCL8, CCL11, CCL13, CCL14, CCL15, CCL16, CCL18, and CCL23

Diseases & disorders

The following diseases are related to genes on chromosome 17:

• 17Q21.31 Microdeletion Syndrome
• Alexander disease
• Andersen-Tawil syndrome
• Birt-Hogg-Dubé syndrome
• Bladder cancer
• Breast cancer
• Camptomelic dysplasia
• Canavan disease
• Cerebroretinal microangiopathy with calcifications and cysts
• Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease, type 1
• Corticobasal degeneration
• Cystinosis
• Depression
• Ehlers-Danlos syndrome
• Ehlers-Danlos syndrome, arthrochalasia type
• Ehlers-Danlos syndrome, classical type
• Epidermodysplasia verruciformis
• Galactosemia
• Glycogen storage disease type II (Pompe disease)
• Hereditary neuropathy with liability to pressure palsies
• Howel–Evans syndrome
• Li-Fraumeni syndrome
• Maturity onset diabetes of the young type 5
• Miller-Dieker syndrome
• Multiple synostoses syndrome
• Neurofibromatosis type I
• Nonsyndromic deafness
• Nonsyndromic deafness, autosomal dominant
• Nonsyndromic deafness, autosomal recessive
• Osteogenesis imperfecta
• Osteogenesis Imperfecta, Type I
• Osteogenesis Imperfecta, Type II
• Osteogenesis Imperfecta, Type III
• Osteogenesis Imperfecta, Type IV
• Potocki-Lupski syndrome
• Proximal symphalangism
• Smith-Magenis syndrome
• Usher syndrome
• Usher syndrome type I
• Very long-chain acyl-coenzyme A dehydrogenase deficiency

References

• Gilbert F (1998). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 17". Genet Test 2 (4): 357–81. doi:10.1089/gte.1998.2.357. PMID 10464617.