| Modification Notes |
WWC3 (WW and C2 domain containing 3), also known as BM042, is a 1,092 amino acid protein belonging to the WWC family. Containing one C2 domain, WWC3 exists as two alternatively spliced isoforms and is encoded by a gene located on human chromosome Xp22.2. The X and Y chromosomes are the human sex chromosomes. Chromosome X consists of about 153 million base pairs and nearly 1,000 genes. The combination of an X and Y chromosome lead to normal male development while two copies of X lead to normal female development. There are a number of conditions related to an unusual number and combination of sex chromosomes being inherited. More than one copy of the X chromosome with a Y chromosome causes Klinefelter's syndrome. A single copy of X alone leads to Turner's syndrome. More than 2 copies of the X chromosome, in the absence of a Y chromosome, is known as Triple X syndrome. Color blindness, hemophilia, and Duchenne muscular dystrophy are well known X chromosome-linked conditions which affect males more frequently as males carry a single X chromosome. |
