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Chromosome 4.jpeg

Chromosome 4 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 4 spans more than 186 million base pairs (the building material of DNA) and represents between 6 and 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 4 likely contains between 700 and 1,100 genes.


The following are some of the genes located on chromosome 4:

  • ANK2: ankyrin 2, neuronal
  • EVC: Ellis van Creveld syndrome
  • EVC2: Ellis van Creveld syndrome 2 (limbin)
  • FGFR3: fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism)
  • FGFRL1: fibroblast growth factor receptor-like 1
  • HD: huntingtin (Huntington's disease)
  • MMAA: methylmalonic aciduria (cobalamin deficiency) cblA type
  • PKD2: polycystic kidney disease 2 (autosomal dominant)
  • QDPR: quinoid dihydropteridine reductase
  • SNCA: synuclein, alpha (non A4 component of amyloid precursor)
  • UCHL1: ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
  • WFS1: Wolfram syndrome 1 (wolframin)
  • FGF2: Fibroblast growth factor 2 (basic fibroblast growth factor)
  • KDR: Kinase insert domain receptor (Vascular endothelial growth factor receptor 2)


The following are some of the disorders of interest to psychologists related to genes located on chromosome 4:

  • achondroplasia
  • Crouzonodermoskeletal syndrome
  • Ellis-van Creveld syndrome
  • Huntington disease
  • hypochondroplasia
  • methylmalonic acidemia
  • Muenke syndrome
  • nonsyndromic deafness
  • nonsyndromic deafness, autosomal dominant
  • Parkinsons disease
  • polycystic kidney disease
  • Romano-Ward syndrome
  • tetrahydrobiopterin deficiency
  • thanatophoric dysplasia
  • thanatophoric dysplasia, type 1
  • thanatophoric dysplasia, type 2


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Human chromosomes

{1} {2} {3} {4} {5} {6} {7} {8} {9} {10} {11} {12} {13} {14} {15} {16} {17} {18} {19} {20} {21} {22} {X} {Y}

fr:Chromosome 4 humain
hu:Humán 4-es kromoszóma
pt:Cromossoma 4 (humano)
sr:Хромозом 4 (човек)
tr:kromozom 4
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