Kromozom 17, toplamda 22 çift olan otozomal insan kromozomlarından onyedincisidir. İnsanlarda normalde bir çift halinde bulunur. 81 milyon baz çiftine ve toplam hücre DNA`sının %2,5 ya da %3`üne sahiptir. Kromozom 17, muhtemelen 1,200 ile 1,500 arasında gen içermektedir.
Genler
}Kromozom 17 üzerinde bulunan genlerden bazıları:
- ACADVL: acyl-coenzyme A dehydrogenase, very long chain
- ACTG1: actin, gamma 1
- ASPA: aspartoacylase (Canavan disease)
- BRCA1: breast cancer 1, early onset
- 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
Hastalıklar
Kromozom 17 üzerinde bulunan genlerle ilgili olan hastalıkların bazıları:- Alexander disease
- Andersen-Tawil syndrome
- Birt-Hogg-Dubí© syndrome
- bladder cancer
- breast cancer
- 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
}
