Made up of nearly 146 million bases, chromosome 8 encodes about 800 genes. Translocation of portions of chromosome 8 with amplifications of the c-Myc gene are found in some leukemias and lymphomas, and typically associated with a poor prognosis. Portions of chromosome 8 have been linked to schizophrenia and bipolar disorder. Trisomy 8, also known as Warkany syndrome 2, most often results in early miscarriage but is occasionally seen in a mosaic form in surviving patients who suffer to a varying degree from a number of symptoms including retarded mental and motor development, and certain facial and developmental defects. WRN is a DNA helicase encoded by chromosome 8 and shown defective in those with the early aging disorder Werner syndrome. Chromosome 8 is also associated with Pfeiffer syndrome, congenital hypothyroidism and Waardenburg syndrome. The C8orf80 gene product has been provisionally designated C8orf80 pending further characterization.
Function:
Plays a role as replication-related GTPase protein in germinal center B-cell.
Subcellular Location:
Nucleus.
Tissue Specificity:
Expressed in germinal center B-cell and in lymphomas derived from germinal center B-cell.
SWISS:
Q68CJ6
Gene ID:
389643
Database links:
Entrez Gene: 389643 Human
SwissProt: Q68CJ6 Human
Unigene: 370129 Human
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