| Modification Notes |
Epiplakin 1, also known as EPPK1 or EPIPL, is a 5,065 amino acid protein that localizes to both the cytoplasm and the cytoskeleton and contains 65 plectin repeats. One of several members of the cytolinker family, epiplakin 1 is expressed at high levels in colon, liver, stomach, intestine and salivary glands and is encoded by a gene which maps to human chromosome 8. Consisting of nearly 146 million base pairs, chromosome 8 encodes over 800 genes and is associated with a variety of diseases and malignancies. Schizophrenia, bipolar disorder, Trisomy 8, Pfeiffer syndrome, congenital hypothyroidism, Waardenburg syndrome and some leukemias and lymphomas are thought to occur as a result of defects in specific genes that maps to chromosome 8. |