SCARF1

Chr 17

scavenger receptor class F member 1

Also known as: SREC, SREC-I, SREC1

NCBI Gene: 8578 ENSG00000074660 UniProt: Q14162

The protein is a scavenger receptor expressed in endothelial cells that mediates binding and degradation of acetylated low density lipoprotein and regulates neurite-like outgrowth. Mutations cause Van den Ende-Gupta syndrome, an autosomal recessive disorder characterized by severe contractures, distinctive craniofacial features, and skeletal abnormalities. The gene shows low constraint against loss-of-function variants, consistent with the recessive inheritance pattern.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a scavenger receptor that is expressed in endothelial cells. It regulates the uptake of chemically modified low density lipoproteins, including acetylated low density lipoprotein (Ac-LDL), and it may be involved in atherogenesis. This gene is regulated by the transcription factors ZNF444/EZF-2 and SP1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.73

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)