FIGLA Chromosome 2
Folliculogenesis specific bHLH transcription factor
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What This Gene Does
This gene encodes a protein that functions in postnatal oocyte-specific gene expression. The protein is a basic helix-loop-helix transcription factor that regulates multiple oocyte-specific genes, including genes involved in folliculogenesis and those that encode the zona pellucida. Mutations in this gene cause premature ovarian failure type 6. [provided by RefSeq, Sep 2009]
Gene Info
Gene Group
Basic helix-loop-helix proteins
Locus Type
gene with protein product
Location
2p13.3
Ensembl
ENSG00000183733
Associated Conditions (3)
Premature ovarian failure 6
Inborn genetic diseases
Genetic non-acquired premature ovarian failure
Key Variants
RS200665269
Conflicting classifications of pathogenicity
Premature ovarian failure 6, Inborn genetic diseases, Premature ovarian failure 6
Health Risk
RS1553390248
Likely pathogenic
Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
Health Risk
RS1001164504
Pathogenic
Premature ovarian failure 6, Premature ovarian failure 6
Health Risk
RS587776535
Pathogenic
Premature ovarian failure 6, Premature ovarian failure 6
Health Risk
RS71647804
Pathogenic
Premature ovarian failure 6, Premature ovarian failure 6
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200665269 | Health Risk | Conflicting classifications of pathogenicity | Premature ovarian failure 6, Inborn genetic diseases, Premature ovarian failure 6 |
| RS1553390248 | Health Risk | Likely pathogenic | Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure |
| RS1001164504 | Health Risk | Pathogenic | Premature ovarian failure 6, Premature ovarian failure 6 |
| RS587776535 | Health Risk | Pathogenic | Premature ovarian failure 6, Premature ovarian failure 6 |
| RS71647804 | Health Risk | Pathogenic | Premature ovarian failure 6, Premature ovarian failure 6 |