Aliases for POF1B Gene
External Ids for POF1B Gene
Previous GeneCards Identifiers for POF1B Gene
Premature ovarian failure (POF) is characterized by primary or secondary amenorrhea in women less than 40 years old. Two POF susceptibility regions called "POF1" and "POF2" have been identified by breakpoint mapping of X-autosome translocations. POF1 extends from Xq21-qter while POF2 extends from Xq13.3 to Xq21.1. This gene, POF1B, resides in the POF2 region. This gene is expressed at trace levels in mouse prenatal ovary and is barely detectable or absent from adult ovary, in human and in the mouse respectively. This gene's expression is restricted to epithelia with its highest expression in the epidermis, and oro-pharyngeal and gastro-intestinal tracts. The protein encoded by this gene binds non-muscle actin filaments. The role this gene may play in the etiology of premature ovarian failure remains to be determined. [provided by RefSeq, Jan 2010]
GeneCards Summary for POF1B Gene
POF1B (POF1B Actin Binding Protein) is a Protein Coding gene. Diseases associated with POF1B include Premature Ovarian Failure 2B and Amenorrhea. Gene Ontology (GO) annotations related to this gene include actin binding.
UniProtKB/Swiss-Prot Summary for POF1B Gene
Plays a key role in the organization of epithelial monolayers by regulating the actin cytoskeleton. May be involved in ovary development.