| PMID:
24865609
|
| Subject&Disease:
Microcephalic osteodysplastic primordial dwarfism type I (MOPD I)
|
| Sample:
Umbilical cord fibroblast
|
| Species:
Homo sapiens
|
| ncRNA Category:
snRNA
|
| ncRNA Symbols:
RNU4ATAC
|
| Accession number:
null
|
| chromosome Location:
null
|
| Expression pattern:
Upregulation
|
| High-throughput experiment methods:
null
|
| Low-throughput experiment methods:
RT-PCR
|
| Targets of ncRNA:
null
|
| Detection methods for targets:
null
|
| Description the function of ncRNA:
The inefficient splicing of genes containing U12-dependent introns in patient cells is due to defects in minor tri-snRNP formation, and the MOPD I-associated RNU4ATAC mutations can affect multiple facets of minor snRNA function.
|
| Year:
2014
|
| Title:
Biochemical defects in minor spliceosome function in the developmental disorder MOPD I
|
| External Link:
Ensembl Link
;
HGNC Link
|
