Chromosome 3 (human)

Chromosome 3 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 3 spans almost 200 million base pairs (the building material of DNA) and represents about 6.5 percent of the total DNA in cells.

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Identifying genes on each chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 3 likely contains between 1,100 and 1,500 genes.

Genes

The following are some of the genes located on chromosome 3:

• ALAS1: aminolevulinate, delta-, synthase 1
• BTD: biotinidase
• CCR5: chemokine (C-C motif) receptor 5
• CPOX: coproporphyrinogen oxidase (coproporphyria, harderoporphyria)
• HGD: homogentisate 1,2-dioxygenase (homogentisate oxidase)
• MCCC1: methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)
• MITF: microphthalmia-associated transcription factor
• MLH1: mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
• PCCB: propionyl Coenzyme A carboxylase, beta polypeptide
• PDCD10: programmed cell death 10
• PIK3CA: phosphoinositide-3-kinase, catalytic, alpha polypeptide
• RAB7: RAB7, member RAS oncogene family
• SCN5A: sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)
• SLC25A20: solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
• TMIE: transmembrane inner ear
• USH3A: Usher syndrome 3A
• VHL: von Hippel-Lindau tumor suppressor
• ZNF9: zinc finger protein 9 (a cellular retroviral nucleic acid binding protein)

Diseases & disorders

The following diseases are some of those related to genes on chromosome 3:

• alkaptonuria
• biotinidase deficiency
• Brugada syndrome
• carnitine-acylcarnitine translocase deficiency
• cerebral cavernous malformation
• Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease, type 2
• hereditary coproporphyria
• hereditary nonpolyposis colorectal cancer
• 3-methylcrotonyl-CoA carboxylase deficiency
• myotonic dystrophy
• myotonic dystrophy, type 2
• nonsyndromic deafness
• nonsyndromic deafness, autosomal recessive
• porphyria
• propionic acidemia
• Romano-Ward syndrome
• Usher syndrome
• Usher syndrome type III
• von Hippel-Lindau syndrome
• Waardenburg syndrome
• Autism
• Night blindness
• Deafness
• HIV infection, susceptibility/resistance to
• Diabetes
• Breast/colon/lung/pancreatic cancer
• Usher syndrome/ Usher syndrome (Finland)
• Ovarian cancer
• Muir-Torre family cancer syndrome
• Glaucoma, primary open angle
• Essential tremors
• Short stature
• Leukoencephalopathy with vanishing white matter
• Harderoporphyrinuria
• Spinocerebellar ataxia
• Moyamoya disease
• Endplate acetlycholinesterase deficiency
• Hypobetalipoproteinemia, familial
• Septo-optic dysplasia
• Long QT syndrome
• Cataracts
• Mucopolysaccharidosis
• Heart block, progressive/nonprogressive
• Malignant hyperthermia susceptibility
• Atransferrinemia
• Sucrose intolerance
• Cerebral cavernous malformations
• Neuropathy, hereditary motor and sensory, Okinawa type
• Protein S deficiency
• T-cell leukemia translocation altered gene
• Xeroderma pigmentosum, complementation group c
• Hailey-Hailey disease
• Coproporphyria
• Dopamine receptor
• Glycogen storage disease
• Arrhythmogenic right ventricular dysplasia
• Pseudo-Zellweger syndrome
• Blepharophimosis, epicanthus inversus and ptosis type 1
• Lymphomas
• Metaphyseal chondrodysplasia, Murk Jansen type
• Moebius syndrome
• Epidermolysis bullosa
• Chromosome 3q duplication syndrome