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FOXL2 forkhead box L2

Gene ID: 668, updated on 5-Jan-2022
Gene type: protein coding
Also known as: BPES; PFRK; POF3; BPES1; PINTO

Summary

This gene encodes a forkhead transcription factor. The protein contains a fork-head DNA-binding domain and may play a role in ovarian development and function. Expansion of a polyalanine repeat region and other mutations in this gene are a cause of blepharophimosis syndrome and premature ovarian failure 3. [provided by RefSeq, Jul 2016]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
A genome-wide association study identifies four susceptibility loci for keloid in the Japanese population.
GeneReviews: Not available
Blepharophimosis, ptosis, and epicanthus inversusSee labs
Premature ovarian failure 3
MedGen: C1837008OMIM: 608996GeneReviews: Not available
See labs

Copy number response

Description
Copy number response
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2021-02-09)

ClinGen Genome Curation PagePubMed
Triplosensitivity

No evidence available (Last evaluated 2021-02-09)

ClinGen Genome Curation Page

Genomic context

Location:
3q22.3
Sequence:
Chromosome: 3; NC_000003.12 (138944224..138947137, complement)
Total number of exons:
1

Links

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