Chromosome 2

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 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.

Read Also:

  • 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 […]

  • Chromosome 4p- syndrome

    Chromosome 4p- syndrome: The 4p- syndrome or Wolf-Hirschhorn syndrome, is a chromosome disorder due to partial deletion of the short (p) arm of chromosome 4. It is, therefore, also called the 4p- syndrome. Features of the syndrome include midline defects with a scalp defect, widespaced eyes, broad or beaked nose, oral facial clefts (cleft lip/palate); […]

  • Chromosome 5q- syndrome

    Chromosome 5q- syndrome: A blood disorder due to the loss of part of the long (q) arm of chromosome 5 in myeloid (bone marrow) cells, causing refractory (treatment-resistant) anemia, and myelodysplastic syndrome that is generally associated with a good prognosis but on occasion may lead to acute myeloid leukemia (AML). The immune modulating lenalidomide (Revlimid) […]

  • Chromosome band

    Chromosome band: One of the transverse bands produced on chromosomes by differential staining techniques. Depending on the particular staining technique, the bands are alternating light and dark or fluorescent and nonfluorescent. Each human chromosome has a short arm (“p” for “petit”) and long arm (“q” for “queue”) separated by a centromere. The ends of the […]

  • Chromosome banding

    Chromosome banding: The treatment of chromosomes to reveal characteristic patterns of horizontal bands like bar codes. The banding patterns lend each chromosome a distinctive appearance so the 22 pairs of human nonsex chromosomes and the X and Y chromosomes can be identified and distinguished without ambiguity. Banding also permits the recognition of chromosome deletions (lost […]

Disclaimer: Chromosome 2 definition / meaning should not be considered complete, up to date, and is not intended to be used in place of a visit, consultation, or advice of a legal, medical, or any other professional. All content on this website is for informational purposes only.