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.
Function:
Possible role in ribosomal RNA processing (By similarity). May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex.
Subunit:
Interacts with DDB1.
Subcellular Location:
Nucleus, nucleolus (By similarity).
Similarity:
Contains 7 WD repeats.
SWISS:
Q9NV06
Gene ID:
25879
Database links:
Entrez Gene: 25879 Human
Entrez Gene: 223499 Mouse
Entrez Gene: 100173913 Orangutan
SwissProt: Q5ZLK1 Chicken
SwissProt: Q9NV06 Human
SwissProt: Q6PAC3 Mouse
SwissProt: Q5R4T8 Orangutan
Unigene: 532265 Human
Unigene: 321937 Mouse
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