Enables riboflavin transmembrane transporter activity. Involved in embryo development. Predicted to be located in plasma membrane. Human ortholog(s) of this gene implicated in several diseases, including Brown-Vialetto-Van Laere syndrome 1; Brown-Vialetto-Van Laere syndrome 2; and Fazio-Londe disease. Is an ortholog of human SLC52A2 (solute carrier family 52 member 2) and SLC52A3 (solute carrier family 52 member 3).
This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family member is thought to function in craniofacial development, possibly in the fusion of lip and palate. A missense mutation in this gene is associated with Van der Woude syndrome 2. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]
Enables riboflavin transmembrane transporter activity. Involved in IRE1-mediated unfolded protein response. Predicted to be located in plasma membrane. Human ortholog(s) of this gene implicated in several diseases, including Brown-Vialetto-Van Laere syndrome 1; Brown-Vialetto-Van Laere syndrome 2; and Fazio-Londe disease. Is an ortholog of human SLC52A1 (solute carrier family 52 member 1); SLC52A2 (solute carrier family 52 member 2); and SLC52A3 (solute carrier family 52 member 3).
This gene encodes a member of the interferon regulatory transcription factor (IRF) family. Family members share a highly-conserved N-terminal helix-turn-helix DNA-binding domain and a less conserved C-terminal protein-binding domain. The encoded protein may be a transcriptional activator. Mutations in this gene can cause van der Woude syndrome and popliteal pterygium syndrome. Mutations in this gene are also associated with non-syndromic orofacial cleft type 6. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2011]
Is predicted to encode a protein with the following domains: Derlin and Der1-like family. Is an ortholog of C. elegans der-2. In C. elegans, der-2 is involved in IRE1-mediated unfolded protein response.
Is predicted to encode a protein with the following domains: Derlin and Der1-like family. Is an ortholog of C. elegans der-2. In C. elegans, der-2 is involved in IRE1-mediated unfolded protein response.
Is predicted to encode a protein with the following domains: Derlin and Der1-like family. Is an ortholog of C. elegans der-2. In C. elegans, der-2 is involved in IRE1-mediated unfolded protein response.
Is predicted to encode a protein with the following domains: Derlin and Der1-like family. Is an ortholog of C. elegans der-2. In C. elegans, der-2 is involved in IRE1-mediated unfolded protein response.
Is predicted to encode a protein with the following domains: Derlin and Der1-like family. Is an ortholog of C. elegans der-2. In C. elegans, der-2 is involved in IRE1-mediated unfolded protein response.