MEDICAL DICTIONARY
Chromosome 2: The second largest chromosome in the human genome . Chromosome 2 contains over 240 million base pairs and more than 2500 genes , including the ETM2 gene for essential tremor , the MSH2 and MSH6 genes for colon cancer , and the PAX3 gene for Waardenburg syndrome .
The ETM2 gene for essential tremor (uncontrollable shaking) of the the hands and head was originally mapped to chromosome 2 in a large American family of Czech descent.
Among the genes involved in colorectal cancer are MSH2 and MSH6 on chromosome 2 and MLH1 on chromosome 3. The protein products of these genes normally help repair mistakes made in DNA replication . If the MSH2, MSH6, and MLH1 proteins are mutated, the replication errors are not repaired, leading to damaged DNA and colon cancer.
Pax3 is one of a family of Pax genes involved in regulating embryonic development at the level of transcription . Mutation of Pax3 leads to Waardenburg syndrome with a wide bridge of the nose; pigmentary disturbances such as two different colored eyes, white forelock and eyelashes and premature graying of the hair; and some degree of nerve deafness .
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