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Details of POP1 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| POP1 | KIAA0061 | Q99575 | POP1_HUMAN | 10940
| ENSG00000104356
| Ribonucleases P/MRP protein subunit POP1 | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| Note=Defects in POP1 may be the cause of a severe skeletal dysplasia reminiscent of anauxetic dysplasia. Affected individuals show severe growth retardation of prenatal onset, a bone dysplasia affecting the epiphyses and metaphyses of the long bones particularly in the lower limbs, and abnormalities of the spine including irregularly shaped vertebral bodies and marked cervical spine instability. ----------------------------------------------------------------------- Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms Distributed under the Creative Commons Attribution-NoDerivs License ----------------------------------------------------------------------- |
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