Kromozom 17 (insan)

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.

İnsan karyotipinde kromozomlar

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-Dubé 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