Gene Symbol | EFTUD2 |
Entrez Gene ID | 9343 |
Full Name | elongation factor Tu GTP binding domain containing 2 |
Synonyms | MFDGA,MFDM,SNRNP116,Snrp116,Snu114,U5-116KD |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Mandibulofacial dysostosis, Guion-Almeida type, 610536 (3) |