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 83 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 genome annotation their predictions of the number of genes on each chromosome varies. In January 2017, two estimates differed by 9%, with one estimate giving 2,432 genes, and the other estimate giving 2,653 genes.
Chromosome 17 contains the Homeobox B gene cluster.
The following are some of the genes and their corresponding Cytogenetic location on chromosome 17:
ABI3: encoding protein ABI gene family member 3
AZI1: encoding protein 5-azacytidine-induced protein 1
GGT6: encoding protein Gamma-glutamyltransferase 6
RPL23A: encoding protein 60S ribosomal protein L23a
SPACA3: Sperm acrosome membrane-associated protein 3
Several CC chemokines: CCL1, CCL2, CCL3, CCL4, CCL5, CCL7, CCL8, CCL11, CCL13, CCL14, CCL15, CCL16, CCL18, and CCL23
GRB7: Growth factor Receptor-Bound protein 7 (17q12)
RHBDF2: Rhomboid family member 2 (17q25.3)
RPS6KB1 or S6K: Ribosomal protein S6-kinase (17q23.1)
SCN4A: Voltage-Gated Sodium Channel Subunit Alpha Nav1.4 (17q23.3)
CBX1: chromobox homolog 1 (17q21.32)
ACTG1: actin, gamma 1 (17q25)
BRCA1: breast cancer 1, early onset (17q21)
COL1A1: collagen, type I, alpha 1 (17q21.33)
ERBB2 loca leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (17q12)
GALK1: galactokinase 1 (17q24)
GFAP: glial fibrillary acidic protein (17q21)
KCNJ2: potassium inwardly-rectifying channel, subfamily J, member 2 (17q24.3)
MAPT gene coding for encoding tau protein (17q21.1)
NF1: neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease) (17q11.2)
NOG: Noggin protein (17q22)
SLC4A1: Band 3 anion transporter protein. Solute carrier family 4, member 1 (17q21.31)
SLC6A4: Serotonin transporter linked to Obsessive Compulsive Disorder (OCD) (17q11.2)
TMC6 and TMC8: Transmembrane channel-like 6 and 8 (epidermodysplasia verruciformis) (17q25.3)
USH1G: Usher syndrome 1G (autosomal recessive) (17q25.1)
RARA or RAR-alpha: Retinoic acid receptor Alpha (involved in t(15,17) with PML) (17q21)
SHBG: Sex hormone binding globulin (17p13.1)
ACADVL: acyl-coenzyme A dehydrogenase, very long chain (17p13.1)
ASPA: aspartoacylase (Canavan disease) (17p13.3)
CTNS: cystinosin, the lysosomal cystine transporter (17p13)
FLCN: folliculin (17p11.2)
MYO15A: myosin XVA (17p11.2)
PMP22: peripheral myelin protein 22 (17p12)
TP53: tumor suppressor protein p53 (Li-Fraumeni syndrome), tumor suppressor gene (17p13.1)
RAI1: retinoic acid induced 1 (17p11.2)
USP6: Ubiquitin carboxyl-terminal hydrolase 6 linked to Aneurysmal bone cyst (17p13)
Diseases and 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
Bruck syndrome
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, 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
Very long-chain acyl-coenzyme A dehydrogenase deficiency
Aneurysmal bone cyst
Obsessive Compulsive Disorder
