FER1L6 (fer-1-like protein 6) is a 1,857 amino acid single-pass membrane protein that belongs to the ferlin family and contains six C2 domains. The gene encoding FER1L6 maps to human chromosome 8, which is made up of nearly 146 million bases and 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.
Subcellular Location:
Membrane.
Similarity:
Belongs to the ferlin family.
Contains 6 C2 domains.
SWISS:
Q2WGJ9
Gene ID:
654463
Database links:
Entrez Gene: 654463 Human
SwissProt: Q2WGJ9 Human
Unigene: 66458 Human
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