| Modification Notes |
STOX1 (storkhead box 1), also known as PEE4 or C10orf24, is a 989 amino acid protein that exists as three alternatively spliced isoforms, designated A, B and C, all of which localize to either the cytoplasm or the nucleus. Functioning as a DNA-binding protein, STOX1 is involved in the development of pre-eclampsia/eclampsia 4 (PEE4), a pregnancy-associated disease that impacts both the mother and the child and is characterized by hypertension, as well as swelling, sudden weight gain and protein in the urine. The gene encoding STOX1 maps to human chromosome 10, which houses over 1,200 genes and comprises nearly 4.5% of the human genome. Defects in some of the genes that map to chromosome 10 are associated with Charcot-Marie Tooth disease, Jackson-Weiss syndrome, Usher syndrome, nonsyndromatic deafness, Wolman’s syndrome, Cowden syndrome, multiple endocrine neoplasia type 2 and porphyria. |