NPC2

Aliases:
This biomarker is also known as:
  • Human epididymis-specific protein 1
  • He1
  • Niemann-Pick disease type C2 protein
  • Niemann-Pick disease, type C2
  • NPC2
  • Epididymal secretory protein E1
  • EDDM1
  • HE1
  • MGC1333

Description…

NPC2, a secreted protein containing a lipid recognition domain, may function in regulating the transport of cholesterol through the late endosomal/lysosomal system. NPC2 may be involved in the regulation of the lipid composition of sperm membranes during the maturation in the epididymis. Mutations in this gene have been associated with Niemann-Pick disease, type C2 and frontal lobe atrophy.

Datasets

There are no datasets associated with this biomarker.

Attributes
QA State: Under Review
Type: Protein
HGNC Name: NPC2

Organ-specific information for this biomarker is currently being annotated or is "under review". Logging in may give you privileges to view additional information. Contact the Informatics Center if you believe you should have access to this biomarker.

Organ-specific information for this biomarker is currently being annotated or is "under review". Logging in may give you privileges to view additional information. Contact the Informatics Center if you believe you should have access to this biomarker.

Organ-specific information for this biomarker is currently being annotated or is "under review". Logging in may give you privileges to view additional information. Contact the Informatics Center if you believe you should have access to this biomarker.

Organ-specific information for this biomarker is currently being annotated or is "under review". Logging in may give you privileges to view additional information. Contact the Informatics Center if you believe you should have access to this biomarker.

Version 5.1.0