The encoded protein is a member of glycosyltransferase family 29 and may be localized to the Golgi apparatus.

Mutation in this gene has been associated with Amish infantile epilepsy syndrome.

Transcript variants encoding different isoforms have been found for this gene.

[6] Mutations in this gene have also been associated to ‘Salt & Pepper’ syndrome: an autosomal recessive condition characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation.

This article on a gene on human chromosome 2 is a stub.