CRPPA (CDP-L-ribitol pyrophosphorylase A)

2014-08-01 Affiliation

Identity

HGNC

CRPPA

LOCATION

7p21.2

LOCUSID

729920

ALIAS

ISPD,LGMDR20,MDDGA7,MDDGC7,Nip,hISPD

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

Pathway	Source	External ID
Pentose and glucuronate interconversions	KEGG	ko00040
Pentose and glucuronate interconversions	KEGG	hsa00040
Metabolic pathways	KEGG	hsa01100
Mannose type O-glycan biosynthesis	KEGG	ko00515
Mannose type O-glycan biosynthesis	KEGG	hsa00515

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