NPC1 |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- NPC1 (HGNC:7897) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- NPC intracellular cholesterol transporter 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- SLC65A1
- %HI
- 44.18(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.68(Read more about gnomAD LOEUF score)
- Cytoband
- 18q11.2
- Genomic Coordinates
-
GRCh37/hg19: chr18:21111406-21166470 NCBI Ensembl UCSC GRCh38/hg38: chr18:23506184-23586506 NCBI Ensembl UCSC - MANE Select Transcript
- NM_000271.5 ENST00000269228.10 (Read more about MANE Select)
- Function
- Intracellular cholesterol transporter which acts in concert with NPC2 and plays an important role in the egress of cholesterol from the endosomal/lysosomal compartment (PubMed:9211849, PubMed:9927649, PubMed:10821832, PubMed:18772377, PubMed:27238017, PubMed:12554680). Unesterified cholesterol that has been released from LDLs in the lumen of the late endosomes/lysosomes is transferred by NPC2 to the cholesterol-binding pocket in the N-terminal domain of NPC1 (PubMed:9211849, PubMed:9927649, PubM... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-9547
ClinGen Curation ID:
CCID:007565
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- Niemann-Pick disease, type C1 Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000018.9)
(NC_000018.10)