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Details of EFTUD2 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| EFTUD2 | KIAA0031,SNRP116 | Q15029 | U5S1_HUMAN | 9343
| ENSG00000108883
| 116 kDa U5 small nuclear ribonucleoprotein component | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| Mandibulofacial dysostosis with microcephaly (MFDM) [MIM:610536]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry. |
610536 |
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
|
