CRPPA (CDP-L-ribitol pyrophosphorylase A)

2014-08-01 Affiliation

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

dbSNP: 729920
ClinVar: 729920
TCGA: ENSG00000214960
COSMIC: CRPPA

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

Pubmed ID	Year	Title	Citations
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
23217329	2012	Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.	48
27194101	2016	ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan.	37
20628086	2010	Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.	11
26220087	2015	Downregulation of dystroglycan glycosyltransferases LARGE2 and ISPD associate with increased mortality in clear cell renal cell carcinoma.	3
22522420	2012	ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.	0
22522421	2012	Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan.	0
23288328	2013	ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.	0
23390185	2013	Limb-girdle muscular dystrophy with α-dystroglycan deficiency and mutations in the ISPD gene.	0

Dessen P

CRPPA (CDP-L-ribitol pyrophosphorylase A)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01