Premature Ovarian Failure, 1b (POF1B) Antibody – Rabbit Polyclonal

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]

POF1B iso1: May be involved in ovary development. Defects in POF1B are the cause of premature ovarian failure type 2B (POF2B). An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Actin-binding

Chromosomal Location of Human Ortholog: Xq21.2

Cellular Component: tight junction

Molecular Function: actin binding

Disease: Premature Ovarian Failure 2b