Chromosome 9 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome, as they normally do with all chromosomes. Chromosome 9 spans about 138 million base pairs of nucleic acids (the building blocks of DNA) and represents between 4 and 4.5 percent 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 14%, with one estimate giving 2,262 genes, and the other estimate giving 1,940 genes.
The following are some of the genes located on chromosome 9:
ABO: ABO histo-blood group glycosyltransferases
ACTL7A: encoding protein Actin-like protein 7A
ADAMTS13: ADAM metallopeptidase with thrombospondin type 1 motif, 13
ALAD: aminolevulinate, delta-, dehydratase
ALS4: amyotrophic lateral sclerosis 4
ASS: argininosuccinate synthetase
CCL21: chemokine (C-C motif) ligand 21, SCYA21
CCL27: chemokine (C-C motif) ligand 27, SCYA27
C9orf58/AIF1L: encoding protein Allograft inflammatory factor 1-like
C9orf78: encoding protein Uncharacterized protein C9orf78
C9orf82: encoding protein Uncharacterized protein C9orf82
C9orf91: encoding protein C9orf91
C9orf135: encoding protein Chromosome 9 open reading frame 135
COL5A1: collagen, type V, alpha 1
ENG: endoglin (Osler-Rendu-Weber syndrome 1)
FIBCD1: encoding protein Fibrinogen C domain containing 1
FXN: frataxin
GALT: galactose-1-phosphate uridylyltransferase
GLE1L: Nucleoporin GLE1
GRHPR: glyoxylate redasductase/hydroxypyruvate reductase
IKBKAP: inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
MGC50722: Protein MGC50722, Uncharacterized Protein LOC399693
TGFBR1: transforming growth factor beta, receptor type I
TMC1: transmembrane channel-like 1
TSC1: tuberous sclerosis 1
Diseases and disorders
The following diseases are some of those related to genes on chromosome 9:
acytosiosis
ALA-D deficiency porphyria
citrullinemia
chronic myelogenous leukemia (t9;22 - the Philadelphia chromosome)
Diaphyseal Medullary Stenosis with Malignant Fibrous Histiosytoma (DMS-MFH, Hardcastle Syndrome)
Ehlers-Danlos syndrome
Ehlers-Danlos syndrome, classical type
familial dysautonomia
Friedreich ataxia
galactosemia
Gorlin syndrome or nevoid basal cell carcinoma syndrome
hereditary hemorrhagic telangiectasia
lethal congenital contracture syndrome
nail-patella syndrome (NPS)
nonsyndromic deafness
nonsyndromic deafness, autosomal dominant
nonsyndromic deafness, autosomal recessive
OCD
polycythemia vera
porphyria
primary hyperoxaluria
Tangier's disease
tetrasomy 9p
thrombotic thrombocytopenic purpura
trisomy 9
tuberous sclerosis
VLDLR-associated cerebellar hypoplasia
