Relevance to Autism

Analysis of genome-wide assocation study (GWAS) data from the Autism Genome Project (AGP) identified two SNPs within the sixth intron of the PHB gene that significantly associated with ADI-R item 69 ('repetitive use of objects or interest in parts of objects'); Hi-C interaction analysis subsequently demonstrated that a 10 kb genomic region containing these two SNPs interacted with an adjacent gene, SLC35B1 (Cantor et al., 2017). Both of these SNPs were significant eQTLs for their candidate target gene SLC35B1 in fetal brains, and one of these SNPs (rs2898883) was significantly associated with thalamic volume (SLC35B1 is strongly expressed in the thalamus from prenatal to postnatal stages of development).

Molecular Function

This gene encodes a nucleotide sugar transporter which is a member of solute carrier family 35. The transporters in this family are highly conserved hydrophobic proteins with multiple transmembrane domains.

External Links

References