Gene
NPC1
NPC intracellular cholesterol transporter 1
- HGNC 7897(opens in a new tab)
- Ensembl gene ENSG00000141458(opens in a new tab)
- NCBI Gene 4864(opens in a new tab)
Summary
- Cytogenetic location
- 18q11.2
- Coordinates
- Chromosome 18: 23,531,442–23,586,506 (GRCh38)
- Exons
- 25 exons across 55.1 kb
- Protein
- 1,278 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- SLC65A1
- MANE Select transcript
- ENST00000269228.10NM_000271.5
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Niemann-Pick Disease Type C
- Autosomal recessive
NPC is a complex lipid storage disease mainly characterized by the accumulation of unesterified cholesterol in the late endosomal/lysosomal compartment.
- ClinGen rates the link definitive
- 7 GenCC submitters rate it definitive or strong
What knowing changes
NPC: miglustat (Zavesca, EU approved); arimoclomol (in clinical trials); Types A/B: olipudase alfa (Xenpozyme, 2022 approval for non-neurological manifestations); supportive care; miglustat prior to molecular confirmation may be considered given the diagnostic difficulty
Broader groupings
Lysosomal Storage Disease
- Lysosomal storage disease (other and unspecified types)
One of 59 genes linked to it
Covers lysosomal storage diseases without a dedicated report, such as Farber disease and other ASAH1-related disorders, prosaposin (PSAP) deficiencies, multiple sulfatase deficiency, mucopolysaccharidosis types IX and X, and Dorfman-Chanarin disease; inheritance varies by subtype, most often autosomal recessive.
- ClinGen rates the link definitive
- 7 GenCC submitters rate it definitive or strong
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How NPC1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 4.8 kb of the gene's 55.1 kb; 3,837 of those bases code for the protein.
How a genome test reads NPC1
577
positions in NPC1 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 55.1 kb of NPC1, introns included, not only the 4.8 kb of exons.
Traits linked to NPC1
The Human Phenotype Ontology lists these as features of the rare conditions NPC1 can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). NPC1 gene: NPC intracellular cholesterol transporter 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/npc1
Dante Labs. NPC1 gene: NPC intracellular cholesterol transporter 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/npc1
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