NCBI Summary:
This gene is a member of a gene family which encodes proteins with a basic helix-loop-helix domain. Other members of this gene family encode proteins which function as transcription factors, either enhancing or inhibiting transcription depending on the activity of other DNA binding proteins. The coding region of this gene is located entirely within the terminal exon. The encoded protein may be involved in the survival of neurons (PMID: 15034937). Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2011]
General function
Nucleic acid binding, DNA binding, Transcription factor
Comment
Cellular localization
Nuclear
Comment
Knockout123
Ovarian function
Comment
Expression regulated by
Comment
Ovarian localization
Oocyte
Comment
Follicle stages
Primordial
Comment
This gene is expressed at higher level in primordial oocytes and decreases as follicles growth.
Phenotypes
POF (premature ovarian failure)
Mutations
1 mutations
Species: human
Mutation name: None
type: None fertility: subfertile Comment: This gene has been associated with premature ovarian insufficiency. (Fauser 2010 Panel 2).