CD5L

Chr 1

CD5 molecule like

Also known as: AIM, API6, CT-2, PRO229, SP-ALPHA, Spalpha, hAIM

NCBI Gene: 922 ENSG00000073754 UniProt: O43866 OMIM: 602592

The CD5L protein is secreted by macrophages and acts as a key regulator of lipid synthesis, fatty acid metabolism, and inflammatory responses, while also functioning as a pattern recognition receptor in immune defense. Mutations cause a neurodevelopmental disorder with variable features including intellectual disability, developmental delay, and neurological abnormalities. The condition follows autosomal recessive inheritance and this gene shows very low constraint against loss-of-function variants.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to be involved in cellular defense response. Predicted to act upstream of or within positive regulation of complement-dependent cytotoxicity and regulation of complement activation. Located in cell surface. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.67

LOEUF

Multiple*

Mechanism· predicted