CT47 (cancer/testis antigen family 47) is a 288 amino acid protein that is strongly expressed in testis and lowly expressed in placenta and in brain. The gene encoding CT47 is located on human chromosome X, which 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 unsual 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.
SWISS:
P0C2W7
Gene ID:
643311
Database links:
Entrez Gene: 643311 Human
Omim: 300790 Human
SwissProt: P0C2W7 Human
Unigene: 729566 Human
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