| Modification Notes |
The Forkhead-box (FOX) genes comprise a superfamily of at least 43 members that encode proteins which are involved in transcriptional regulation and may be associated with the pathogenesis of various cancers. FOXI3 (forkhead box I3) is a member of the FOX family which contains one forkhead DNA-binding domain. FOXI3 localizes to the nucleus where it is thought to function as a transcription factor that can bind to DNA via the forkhead domain. The gene that encodes FOXI3 maps to human chromosome 2, the second largest human chromosome consisting of 237 million bases encoding over 1,400 genes. A number of genetic diseases are linked to genes on chromosome 2. Harlequin icthyosis, a rare and morbid skin deformity, is associated with mutations in the ABCA12 gene. The lipid metabolic disorder sitosterolemia is associated with ABCG5 and ABCG8. An extremely rare recessive genetic disorder, Alström syndrome, is due to mutations in the ALMS1 gene. |
