LOCUS AAK01352.1 376 aa PRT HUM 06-FEB-2001 DEFINITION Homo sapiens forkhead transcription factor FOXL2 protein. ACCESSION AF301906-1 PROTEIN_ID AAK01352.1 SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 2745) AUTHORS Crisponi,L., Deiana,M., Loi,A., Chiappe,F., Uda,M., Amati,P., Bisceglia,L., Zelante,L., Nagaraja,R., Porcu,S., Ristaldi,M.S., Marzella,R., Rocchi,M., Nicolino,M., Lienhardt-Roussie,A., Nivelon,A., Verloes,A., Schlessinger,D., Gasparini,P., Bonneau,D., Cao,A. and Pilia,G. TITLE The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome JOURNAL Nat. Genet. 27 (2), 159-166 (2001) PUBMED 11175783 REFERENCE 2 (bases 1 to 2745) AUTHORS Crisponi,L., Deiana,M., Loi,A., Chiappe,F., Uda,M., Ramaja,N., Schlessinger,D., Cao,A. and Pilia,G. TITLE Direct Submission JOURNAL Submitted (30-AUG-2000) Lab. Genoma Umano, IRTAM-CNR, via Jenner s/n, Cagliari, CA 09121, Italy FEATURES Qualifiers source /db_xref="H-InvDB:HIT000076673" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="3" /map="3q23" protein /gene="FOXL2" /note="mutated in blepharophimosis/ptosis/epicanthus inversus syndrome; PINTO" BEGIN 1 MMASYPEPED AAGALLAPET GRTVKEPEGP PPSPGKGGGG GGGTAPEKPD PAQKPPYSYV 61 ALIAMAIRES AEKRLTLSGI YQYIIAKFPF YEKNKKGWQN SIRHNLSLNE CFIKVPREGG 121 GERKGNYWTL DPACEDMFEK GNYRRRRRMK RPFRPPPAHF QPGKGLFGAG GAAGGCGVAG 181 AGADGYGYLA PPKYLQSGFL NNSWPLPQPP SPMPYASCQM AAAAAAAAAA AAAAGPGSPG 241 AAAVVKGLAG PAASYGPYTR VQSMALPPGV VNSYNGLGGP PAAPPPPPHP HPHPHAHHLH 301 AAAAPPPAPP HHGAAAPPPG QLSPASPATA APPAPAPTSA PGLQFACARQ PELAMMHCSY 361 WDHDSKTGAL HSRLDL //