SCP2

Chr 1AR

sterol carrier protein 2

Also known as: NLTP, NSL-TP, SCOX, SCP-2, SCP-CHI, SCP-X, SCPX, nsLTP

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]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Leukoencephalopathy with dystonia and motor neuropathyMIM #613724
AR
UniProtSpermatogenic failure 1

Clinical highlights

Gene-disease validity (ClinGen)
sterol carrier protein 2 deficiency · ARDefinitivesufficient evidence for diagnostic panels
1
Active trials
39
Pubs (1 yr)
P/LP submissions
P/LP missense
0.76
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.76LOEUF
pLI 0.000
Z-score 2.59
OE 0.49 (0.330.76)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.26Z-score
OE missense 0.79 (0.710.88)
226 obs / 286.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.49 (0.330.76)
00.351.4
Missense OE?0.79 (0.710.88)
00.61.4
Synonymous OE?0.97
01.21.6
LoF obs/exp: 15 / 30.4Missense obs/exp: 226 / 286.2Syn Z: 0.24

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SCP2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.