Identity
HGNC
LOCATION
1p36.11
LOCUSID
ALIAS
GPI-MT-II,HPMRS1,PIG-V
FUSION GENES
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: 55650
MIM: 610274
HGNC: 26031
Ensembl: ENSG00000060642
Variants:
dbSNP: 55650
ClinVar: 55650
TCGA: ENSG00000060642
COSMIC: PIGV
RNA/Proteins
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 24129430 | 2014 | Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome. | 18 |
| 24129430 | 2014 | Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome. | 18 |
| 23694781 | 2013 | Glycosylphosphatidylinositol mannosyltransferase II is the rate-limiting enzyme in glycosylphosphatidylinositol biosynthesis under limited dolichol-phosphate mannose availability. | 5 |
| 23694781 | 2013 | Glycosylphosphatidylinositol mannosyltransferase II is the rate-limiting enzyme in glycosylphosphatidylinositol biosynthesis under limited dolichol-phosphate mannose availability. | 5 |
| 22228761 | 2012 | Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome. | 46 |
| 22228761 | 2012 | Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome. | 46 |
| 21739589 | 2011 | Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum. | 25 |
| 21739589 | 2011 | Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum. | 25 |
| 20802478 | 2010 | Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. | 123 |
| 20802478 | 2010 | Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. | 123 |
| 15623507 | 2005 | PIG-V involved in transferring the second mannose in glycosylphosphatidylinositol. | 33 |
| 15623507 | 2005 | PIG-V involved in transferring the second mannose in glycosylphosphatidylinositol. | 33 |
Citation
Dessen P
PIGV (phosphatidylinositol glycan anchor biosynthesis class V)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/71909/pigv-(phosphatidylinositol-glycan-anchor-biosynthesis-class-v)
