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PGBD3

Chr 10ADARSomatic

piggyBac transposable element derived 3

NCBI Gene: 267004 UniProt: Q8N328 OMIM: 621245

The protein is a transposon-derived transcriptional regulator that binds to specific transposable DNA elements and can form fusion transcripts with the adjacent DNA repair gene ERCC6. Mutations cause cerebrooculofacioskeletal syndrome, Cockayne syndrome type B, De Sanctis-Cacchione syndrome, and UV-sensitive syndrome, which are multisystem disorders affecting neurological development, growth, and DNA repair with early childhood onset. The gene shows both autosomal recessive and autosomal dominant inheritance patterns depending on the specific condition.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene is a member of a small family of genes derived from piggyBac transposable elements. The encoded protein contains a zinc-ribbon domain characteristic of transposon-derived proteins and may function as a regulator of transcription. Alternative splicing occurs between a splice site from exon 5 of the adjacent upstream gene 'excision repair cross-complementation group 6' (ERCC6, GeneID: 2074) and the 3' splice site upstream of the open reading frame (ORF) of this gene, which activates the alternative polyadenylation site downstream of the piggyback-derived-3 ORF. The resulting transcripts encode a fusion protein that shares sequence with the product of each individual gene. Pseudogenes for this gene are defined on chromosomes 4, 5 and 12. [provided by RefSeq, Mar 2016]

OMIM ResearchGenerating clinical summary…