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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.
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
- COL7A1: Collagen, type VII, alpha 1 (epidermolysis bullosa, dystrophic, dominant and recessive)
- 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
- PTHR1: parathyroid hormone receptor 1
- 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:
- 3-methylcrotonyl-CoA carboxylase deficiency
- Alkaptonuria
- Arrhythmogenic right ventricular dysplasia
- Atransferrinemia
- Autism
- Biotinidase deficiency
- Blepharophimosis, epicanthus inversus and ptosis type 1
- Breast/colon/lung/pancreatic cancer
- Brugada syndrome
- Carnitine-acylcarnitine translocase deficiency
- Cataracts
- Cerebral cavernous malformation
- Charcot-Marie-Tooth disease, type 2
- Charcot-Marie-Tooth disease
- Chromosome 3q duplication syndrome
- Coproporphyria
- Deafness
- Diabetes
- Dopamine receptor
- Dystrophic epidermolysis bullosa
- Endplate acetlycholinesterase deficiency
- Essential tremors
- Glaucoma, primary open angle
- Glycogen storage disease
- Hailey-Hailey disease
- Harderoporphyrinuria
- Heart block, progressive/nonprogressive
- Hereditary coproporphyria
- Hereditary nonpolyposis colorectal cancer
- HIV infection, susceptibility/resistance to
- Hypobetalipoproteinemia, familial
- Leukoencephalopathy with vanishing white matter
- Long QT syndrome
- Lymphomas
- Malignant hyperthermia susceptibility
- Metaphyseal chondrodysplasia, Murk Jansen type
- Moebius syndrome
- Moyamoya disease
- Mucopolysaccharidosis
- Muir-Torre family cancer syndrome
- Myotonic dystrophy, type 2
- Myotonic dystrophy
- Neuropathy, hereditary motor and sensory, Okinawa type
- Night blindness
- Nonsyndromic deafness, autosomal recessive
- Nonsyndromic deafness
- Ovarian cancer
- Porphyria
- Propionic acidemia
- Protein S deficiency
- Pseudo-Zellweger syndrome
- Romano-Ward syndrome
- Septo-optic dysplasia
- Short stature
- Spinocerebellar ataxia
- Sucrose intolerance
- T-cell leukemia translocation altered gene
- Usher syndrome type III
- Usher syndrome/ Usher syndrome (Finland)
- Usher syndrome
- von Hippel-Lindau syndrome
- Waardenburg syndrome
- Xeroderma pigmentosum, complementation group c
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Wikipedia content modification information:
- This page was last modified on 17 August 2008, at 22:56.
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