Table 1.

POF associated genes at the critical region on chromosome X which are affected at patient

Gene acronym	Gene name	Chromosome localisation	OMIM	Phenotype	Protein
POF1B	Premature ovarian failure1B	ChrXq21.1-q21.2	300603	Premature ovarian failure 2B	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.
BHLHB9	Basic helix-loop-helix domain-containing class B 9	ChrX q21.1		Premature ovarian failure	Other members of this gene family encode proteins which function as transcription factors, either enhancing or inhibiting transcription depending on the activity of the DNA binding proteins.
DACH2	Drosophila dashsund	ChrX q21.2	300608	Premature ovarian failure	This gene is one of two genes which encode a protein similar to the Drosophila protein dachshund, a transcription factor involved in cell fate determination in the eye, limb and genital disc of the fly.
DIAPH2	Homologue drosophila	ChrXq21.33	300108	Premature ovarian failure	The product of this gene belongs to the diaphanous subfamily of the formin homology family of proteins. This gene may play a role in the development and normal function of the ovaries.
CENPI	Centromeric protein 1	ChrXq22.1	300435	Involved in the gonadal tissue response to FSh and assembly of the kinetochore	It has a critical role in chromosome segregation and with deletions candidate for human X-lined disorders of gonadal development and gametogenesis.
PGRMC1	Progesteronereceptor memebrane component-1	ChrXq24	300435	Premature ovarian failure	This gene encodes a putative membrane-associated progesterone steroid receptor. The protein is expressed predominatly in the liver and kidney.
BCORL 1	BCL6 Corepressor-like 1	ChrXq25-q26.1	300686	BCORL1 interacted with class II histon deacetylases suggesting that they are involved in its function as a corepressor	Deletion of BCORL 1 gene may potentially lead to insufficient repressor of apoptosis resulting in atresia of ovarian follicles.
XPNPEP2	Propyl aminopeptidase	ChrXq26.1	300145	Angioedema induced by ACE inhibitors, susceptibility to	XPNPEP2, the X-linked gene that encodes membranous aminopeptidase P (APP), has been reported to associate with APP activity. The membrane aminopeptidase P (XPNPEP2) is largely limited in distribution to endothelia and brush border epithelia.
FMR1	Fragile X mental retardatin 1	ChrXq27.3	309550	Fragile X syndrome Fragile X tremore/ataxia syndrome Premature ovarian failure 1	The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm.
FMR2/AFF2	Fragile X mental retardation 2	ChrXq28	300806	Mentar retardation, X-linked, FRAXE type	This gene encodes a putative transcriptional activator that is a member of the AF4\FMR2 gene family.