| Entrez Gene ID |
9343 |
| Official Gene Symbol |
EFTUD2 (GeneCards) |
| Full name |
elongation factor Tu GTP binding domain containing 2 |
| Location |
17q21.31 |
| Other ids |
Vega : OTTHUMG00000179865
MIM : 603892
HGNC : HGNC:30858
Ensembl : ENSG00000108883
|
| Other names |
MFDM,
MFDGA,
Sn114,
Snrp116,
SNRNP116,
U5-116KD
|
| 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] |