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:
Phospholipase that hydrolyzes preferentially phosphatidic acid and phosphatidylethanolamine. May be involved in the maintenance of the endoplasmic reticulum and/or Golgi structures.
Subcellular Location:
Cytoplasm. Cytoplasmic granule.
Tissue Specificity:
Ubiquitously expressed (at protein level).
Similarity:
Belongs to the PA-PLA1 family.
Contains 1 DDHD domain.
motif) domain.
Contains 1 WWE domain.
SWISS:
O94830
Gene ID:
23259
Database links:
Entrez Gene: 23259 Human
SwissProt: O94830 Human
Unigene: 434966 Human
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