Ontology highlight
ABSTRACT:
SUBMITTER: Saleem RA
PROVIDER: S-EPMC514369 | biostudies-literature | 2004
REPOSITORIES: biostudies-literature
Saleem R A RA Banerjee-Basu S S Murphy T C TC Baxevanis A A Walter M A MA
Nucleic acids research 20040806 14
The forkhead domain (FHD)-containing developmental transcription factor FOXC1 is mutated in patients presenting with Axenfeld-Rieger malformations. In this paper, we report the introduction of positive, negative or neutral charged amino acids into critical positions within the forkhead domain of FOXC1 in an effort to better understand the essential structural and functional determinants within the FHD. We found that FOXC1 is intolerant of mutations at I87. Additionally, alterations of amino acid ...[more]