U.S. flag

An official website of the United States government

GTR Home > Genes

SCP2 sterol carrier protein 2

Gene ID: 6342, updated on 4-Jan-2025
Gene type: protein coding
Also known as: NLTP; SCOX; SCPX; SCP-2; SCP-X; NSL-TP; SCP-CHI

Summary

This gene encodes two proteins: sterol carrier protein X (SCPx) and sterol carrier protein 2 (SCP2), as a result of transcription initiation from 2 independently regulated promoters. The transcript initiated from the proximal promoter encodes the longer SCPx protein, and the transcript initiated from the distal promoter encodes the shorter SCP2 protein, with the 2 proteins sharing a common C-terminus. Evidence suggests that the SCPx protein is a peroxisome-associated thiolase that is involved in the oxidation of branched chain fatty acids, while the SCP2 protein is thought to be an intracellular lipid transfer protein. This gene is highly expressed in organs involved in lipid metabolism, and may play a role in Zellweger syndrome, in which cells are deficient in peroxisomes and have impaired bile acid synthesis. Alternative splicing of this gene produces multiple transcript variants, some encoding different isoforms.[provided by RefSeq, Aug 2010]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Sterol carrier protein 2 deficiency
MedGen: C3150990OMIM: 613724GeneReviews: Not available
See labs

Genomic context

Location:
1p32.3
Sequence:
Chromosome: 1; NC_000001.11 (52927276..53051698)
Total number of exons:
19

Links

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.