Kromozom 9, 22 çift otozomal insan kromozomlarından 9. olanıdır. İnsanlarda normalde bir çift halinde bulunur. 136 milyon baz çiftine ve toplam hücre DNA`sının %4 ya da %4,5`ine sahiptir. Kromozom 9, muhtemelen 800 ile 1,200 arasında gen içermektedir.
Genler
}The following are some of the genes located on chromosome 9:
- ABO: ABO histo-blood group glycosyltransferases
- ADAMTS13: ADAM metallopeptidase with thrombospondin type 1 motif, 13
- ALAD: aminolevulinate, delta-, dehydratase
- ALS4: amyotrophic lateral sclerosis 4
- ASS: argininosuccinate synthetase
- COL5A1: collagen, type V, alpha 1
- ENG: endoglin (Osler-Rendu-Weber syndrome 1)
- FXN: frataxin
- GALT: galactose-1-phosphate uridylyltransferase
- GRHPR: glyoxylate reductase/hydroxypyruvate reductase
- IKBKAP: inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
- TMC1: transmembrane channel-like 1
- TSC1: tuberous sclerosis 1
Diseases
The following diseases are some of those related to genes on chromosome 9:- ALAD deficiency porphyria
- amyotrophic lateral sclerosis (ALS)
- citrullinemia
- Ehlers-Danlos syndrome
- Ehlers-Danlos syndrome, classical type
- familial dysautonomia
- Friedreich ataxia
- galactosemia
- Gorlin syndrome or Nevoid Basal Cell Carcinoma syndrome
- hereditary hemorrhagic telangiectasia
- Nail-patella syndrome (NPS)
- nonsyndromic deafness
- nonsyndromic deafness, autosomal dominant
- nonsyndromic deafness, autosomal recessive
- porphyria
- primary hyperoxaluria
- thrombotic thrombocytopenic purpura
- tuberous sclerosis