UNIPROT #

O15118

PROTEIN NAME

Niemann Pick C1

SYNONYMS

Niemann Pick C1 protein precursor antibody; Niemann Pick disease, type C1 antibody; Niemann-Pick C1 protein antibody; NPC antibody; NPC1 antibody; NPC1_HUMAN antibody

SEQUENCE SIMILARITIES

Belongs to the patched family.

POST-TRANSLATIONAL MODIFICATION

N-glycosylated.

SUBCELLULAR LOCATION

Endosome. Lysosome.

FUNCTION

Cells obtain cholesterol via two distinct pathways, endogenous synthesis in the endoplasmic reticulum and exogenous uptake through the low-density lipoprotein (LDL) receptor pathway. NPC1 is a protein that resides in late endosomes and lysosomes and is involved in the intracellular trafficking of cholesterol. The human NPC1 gene maps to chromosome 18q11.2 and produces proteins which undergo N-glycosylation and are expressed in brain and liver. NPC1 contains a cysteine-rich domain, which is critical for proper protein function, but is highly mutated. Mutations in NPC1 result in Niemann-Pick disease type C (NPC), an autosomal recessive disease characterized by the accumulation of unesterified cholesterol in the endosomal/lysosomal system. The accumulation of cholesterol results in progressive neurodegeneration and death. More than 90% of cases of NPC are due to mutations in NPC1 and patients with NPC display multiple neurological symptoms, such as hepatosplenomegaly, ataxia, dystonia and dementia.