Ontology highlight
ABSTRACT:
SUBMITTER: Marcelli F
PROVIDER: S-EPMC4063770 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
Marcelli Fabienne F Boisset Gaëlle G Schorderet Daniel F DF
PloS one 20140619 6
HMX1 is a homeobox-containing transcription factor implicated in eye development and responsible for the oculo-auricular syndrome of Schorderet-Munier-Franceschetti. HMX1 is composed of two exons with three conserved domains in exon 2, a homeobox and two domains called SD1 and SD2. The function of the latter two domains remains unknown. During retinal development, HMX1 is expressed in a polarized manner and thus seems to play a role in the establishment of retinal polarity although its exact rol ...[more]