Definition of Chromosome 3

Chromosome 3: One of the largest human chromosomes, comprising approximately 6.5% of the human genome. Chromosome 3 has between 1,100 and 1,500 genes of the estimated 30,000 to 40,000 genes in the human genome. Among the genes on chromosome 3 are the HGD gene for alkaptonuria, the BTD gene for biotinidase deficiency, the CPOX gene for hereditary coproporphyria, the MLH1 gene for hereditary nonpolyposis colorectal cancer (HNPCC), the ZNF9 gene for type 2 myotonic dystrophy, the TMIE gene for an autosomal recessive form of nonsyndromic deafness, and the BCCB gene for propionic acidemia.


Last Editorial Review: 9/20/2012

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