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Table 1 POF associated genes at the critical region on chromosome X which are affected at patient

From: Molecular cytogenetic analysis of Xq critical regions in premature ovarian failure

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.