SNRP116 (EFTUD2) Antibody – Rabbit Polyclonal

This gene encodes a GTPase which is a component of the spliceosome complex which processes precursor mRNAs to produce mature mRNAs. Mutations in this gene are associated with mandibulofacial dysostosis with microcephaly. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

EFTUD2: Component of the U5 snRNP complex required for pre-mRNA splicing. Binds GTP. Defects in EFTUD2 are the cause of mandibulofacial dysostosis with microcephaly (MFDM). A rare syndrome characterized by progressive microcephaly, midface and malar hypoplasia, micrognathia, microtia, dysplastic ears, preauricular skin tags, significant developmental delay, and speech delay. Many patients have major sequelae, including choanal atresia that results in respiratory difficulties, conductive hearing loss, and cleft palate. Belongs to the GTP-binding elongation factor family. EF-G/EF-2 subfamily. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Spliceosome; RNA splicing; RNA-binding

Chromosomal Location of Human Ortholog: 17q21.31

Cellular Component: nucleoplasm; spliceosome; Cajal body; membrane; cytoplasm; nuclear speck

Molecular Function: GTPase activity; protein binding; GTP binding

Biological Process: nuclear mRNA splicing, via spliceosome; RNA splicing; gene expression; mRNA processing

Disease: Mandibulofacial Dysostosis, Guion-almeida Type