ENPP1 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- ENPP1 (HGNC:3356) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- ectonucleotide pyrophosphatase/phosphodiesterase 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- NPPS, M6S1, PDNP1
- Alias symbols
- PC-1, PCA1
- %HI
- 20.17(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.59(Read more about gnomAD LOEUF score)
- Cytoband
- 6q23.2
- Genomic Coordinates
-
GRCh37/hg19: chr6:132129160-132216295 NCBI Ensembl UCSC GRCh38/hg38: chr6:131808020-131895155 NCBI Ensembl UCSC - MANE Select Transcript
- NM_006208.3 ENST00000647893.1 (Read more about MANE Select)
- Function
- Nucleotide pyrophosphatase that generates diphosphate (PPi) and functions in bone mineralization and soft tissue calcification by regulating pyrophosphate levels (By similarity). PPi inhibits bone mineralization and soft tissue calcification by binding to nascent hydroxyapatite crystals, thereby preventing further growth of these crystals (PubMed:11004006). Preferentially hydrolyzes ATP, but can also hydrolyze other nucleoside 5' triphosphates such as GTP, CTP and UTP to their corresponding mono... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-33863
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- hypophosphatemic rickets, autosomal recessive, 2 Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000006.11)
(NC_000006.12)