Chromosome 17 (human) Totally Explained

Everything about Chromosome 17 Human totally explained

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
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
SLC6A4: Serotonin transporter
TP53: tumor suppressor protein p53 (Li-Fraumeni syndrome), tumor suppressor gene
USH1G: Usher syndrome 1G (autosomal recessive)
RAI1: retinoic acid induced 1
RARalpha: Retinoic 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 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

Cystinosis

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

Miller-Dieker 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

Smith-Magenis syndrome

Usher syndrome

Usher syndrome type I

Very long-chain acyl-coenzyme A dehydrogenase deficiencyFurther Information

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