Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 729920
MIM: 614631
HGNC: 37276
Ensembl: ENSG00000214960
Variants:
dbSNP: 729920
ClinVar: 729920
TCGA: ENSG00000214960
COSMIC: CRPPA
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000214960 | ENST00000399310 | A4D126 |
| ENSG00000214960 | ENST00000399310 | A0A140VJM1 |
| ENSG00000214960 | ENST00000407010 | A4D126 |
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 31909476 | 2020 | A splice site mutation c.1251G>A of ISPD gene is a common cause of congenital muscular dystrophy in Chinese patients. | 4 |
| 33290265 | 2020 | Hsa_circ_0079480 promotes tumor progression in acute myeloid leukemia via miR-654-3p/HDGF axis. | 11 |
| 31909476 | 2020 | A splice site mutation c.1251G>A of ISPD gene is a common cause of congenital muscular dystrophy in Chinese patients. | 4 |
| 33290265 | 2020 | Hsa_circ_0079480 promotes tumor progression in acute myeloid leukemia via miR-654-3p/HDGF axis. | 11 |
| 27194101 | 2016 | ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan. | 66 |
| 27194101 | 2016 | ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan. | 66 |
| 25444434 | 2015 | A novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous family. | 3 |
| 26087224 | 2015 | ISPD gene homozygous deletion identified by SNP array confirms prenatal manifestation of Walker-Warburg syndrome. | 5 |
| 26220087 | 2015 | Downregulation of dystroglycan glycosyltransferases LARGE2 and ISPD associate with increased mortality in clear cell renal cell carcinoma. | 11 |
| 26404900 | 2015 | ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases. | 4 |
| 25444434 | 2015 | A novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous family. | 3 |
| 26087224 | 2015 | ISPD gene homozygous deletion identified by SNP array confirms prenatal manifestation of Walker-Warburg syndrome. | 5 |
| 26220087 | 2015 | Downregulation of dystroglycan glycosyltransferases LARGE2 and ISPD associate with increased mortality in clear cell renal cell carcinoma. | 11 |
| 26404900 | 2015 | ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases. | 4 |
| 23288328 | 2013 | ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies. | 31 |
Citation
Dessen P
CRPPA (CDP-L-ribitol pyrophosphorylase A)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54386/crppa-(cdp-l-ribitol-pyrophosphorylase-a)
