Chromosome 17 (human)
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Jyostna Chouturi, M.B.B.S [2]
Overview
Chromosome 17 is one of the 24 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
- ERBB2: v-erb-b2 erythroblastic 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
- MYO15A: myosin XVA
- NF1: neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)
- PMP22: peripheral myelin protein 22
- SHBG: Sex hormone binding globulin
- TP53: tumor protein p53 (Li-Fraumeni syndrome)
- USH1G: Usher syndrome 1G (autosomal recessive)
- RAI1: retinoic acid induced 1
- RARalpha: Retenoic Acid Receptor Alpha (involved in t(15,17) with PML)
- 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 some of those related to genes on chromosome 17:
- Alexander disease
- Andersen-Tawil syndrome
- Birt-Hogg-Dubé syndrome
- bladder cancer
- breast cancer
- Camptomelic dysplasia
- Canavan disease
- Charcot-Marie-Tooth disease
- Charcot-Marie-Tooth disease, type 1
- Ehlers-Danlos syndrome
- Ehlers-Danlos syndrome, arthrochalasia type
- Ehlers-Danlos syndrome, classical type
- galactosemia
- hereditary neuropathy with liability to pressure palsies
- Li-Fraumeni syndrome
- maturity onset diabetes of the young type 5
- 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
- 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. PMID 10464617.
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