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Details of SRP72 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| SRP72 | --- | O76094 | SRP72_HUMAN | 6731
| ENSG00000174780
| Signal recognition particle subunit SRP72 | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| Bone marrow failure, familial (BMFF) [MIM:614675]: An autosomal dominant disease characterized by aplastic anemia and myelodysplasia resulting from bone marrow failure. Aplastic anemia is a form of anemia in which the bone marrow fails to produce adequate numbers of peripheral blood elements. Myelodysplasia is a clonal hematopoietic stem cell disorder in which immature cells in the bone marrow become malformed and dysfunctional. Note=The disease is caused by mutations affecting the gene represented in this entry. |
614675 |
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
|
