Gene: NOBOX

Alternate names for this Gene: OG-2|OG2|OG2X|POF5|TCAG_12042

Gene Summary: This homeobox gene encodes a transcription factor that is thought to play a role in oogenesis. In mice, it is essential for folliculogenesis and regulation of oocyte-specific genes. Defects in this gene result in premature ovarian failure type 5.

Gene is located in Chromosome: 7

Location in Chromosome : 7q35

Description of this Gene: NOBOX oogenesis homeobox

Type of Gene: protein-coding

rs112190116 in NOBOX gene and Age at menopause PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs193303103 in NOBOX gene and Premature Ovarian Failure 5 PMID 25514101 2015 New NOBOX mutations identified in a large cohort of women with primary ovarian insufficiency decrease KIT-L expression.

PMID 17701902 2007 NOBOX homeobox mutation causes premature ovarian failure.

PMID 21837770 2011 Novel NOBOX loss-of-function mutations account for 6.2% of cases in a large primary ovarian insufficiency cohort.

PMID 27798098 2016 Impaired protein stability and nuclear localization of NOBOX variants associated with premature ovarian insufficiency.