homeobox protein BarH-like 1 (BARX1)

Function

• transcription factor
• involved in craniofacial development, in odontogenesis & in stomach organogenesis
• may have a role in differentiation of molars from incisors
• role in suppressing endodermal Wnt activity (putative)
• binds to a regulatory module of the NCAM promoter

Structure

• belongs to the BAR homeobox family
• contains 1 homeobox DNA-binding domain

Compartment

nucleus (probable)

Alternative splicing

named isoforms=2

Expression

• widely expressed
• expressed at higher levels in testis & heart
• detected in craniofacial tissue & adult iris
• not expressed in lymphocytes, fibroblasts, choroid retina, retinal pigment epithelium, kidney, or fetal liver

Polymorphism

• polymorphism is not associated with Axenfeld- Reiger syndrome, iridogoniodysgenesis syndrome or related ocular malformations

More general terms

• homeobox protein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=56033
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:56033
• OMIM: https://mirror.omim.org/entry/603260
• UniProt: http://www.uniprot.org/uniprot/Q9HBU1.html