Gene Symbol | FOXL2 |
Entrez Gene ID | 668 |
Full Name | forkhead box L2 |
Synonyms | BPES,BPES1,PFRK,PINTO,POF3 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Blepharophimosis, epicanthus inversus, and ptosis, type 1, 110100 (3); Blepharophimosis, epicanthus inversus, and ptosis, type 2, 110100 (3); Premature ovarian failure 3, 608996 (3) |