CD163L1

Chr 12

CD163 molecule like 1

Also known as: CD163B, M160, SCARI2, WC1

NCBI Gene: 283316 ENSG00000177675 UniProt: Q9NR16 OMIM: 606079

The CD163L1 protein is a membrane-anchored scavenger receptor containing twelve SRCR domains that mediates protein-protein interactions and ligand binding in immune system cells. Mutations cause autosomal recessive familial hemophagocytic lymphohistiocytosis, a severe hyperinflammatory disorder typically presenting in infancy or early childhood. The gene shows minimal constraint against loss-of-function variants in population databases.

OMIM ResearchSummary from RefSeq

This gene encodes a member of the scavenger receptor cysteine-rich (SRCR) superfamily. Members of this family are secreted or membrane-anchored proteins mainly found in cells associated with the immune system. The SRCR family is defined by a 100-110 amino acid SRCR domain, which may mediate protein-protein interaction and ligand binding. The encoded protein contains twelve SRCR domains, a transmembrane region and a cytoplasmic domain. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.86

LOEUF

Multiple*

Mechanism· predicted