NPC1

On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

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A change in the NPC1 gene was identified in a UDN participant with muscle weakness and wasting, loss of consciousness, heart rate abnormalities, and suspected abnormal autonomic nervous system physiology

Date of Report

Jul 17, 2023

Full Name

NPC Intracellular Cholesterol Transporter 1

Location

Function

This gene codes for an intracellular cholesterol transporter that plays an important role in the ejection of cholesterol from the endosomal/lysosomal compartment (Carstea et al. 1997).

Database Links

GeneCards: GC18M023506

MedlinePlus Genetics: NPC1

NCBI Gene: 4864

OMIM: 607623

UniProtKB/Swiss-Prot: O15118

Clinical Significance

A heterozygous change in this gene was identified in a UDN participant.

Gene NPC1

Inheritance Pattern Autosomal recessive

Position (hg19) chr18:g.21148826_ 21148827dup

Transcript NM_000271.4

DNA Change c.423_424dup

Protein Change p.Lys142ArgfsTer80

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