TAFA4

Chr 3

TAFA chemokine like family member 4

Also known as: FAM19A4, TAFA-4

NCBI Gene: 151647 ENSG00000163377 UniProt: Q96LR4 OMIM: 617498

This gene encodes a small secreted protein that functions as a brain-specific chemokine, modulating pain hypersensitivity and acting as a ligand for FPR1 to chemoattract macrophages and promote phagocytosis. TAFA4 mutations cause autosomal recessive inflammatory pain insensitivity, a rare disorder characterized by reduced sensitivity to painful stimuli due to impaired pain signaling pathways. The gene shows low constraint to loss-of-function variation (pLI 0.0007, LOEUF 1.3), consistent with recessive inheritance where both copies must be affected to cause disease.

OMIM ResearchSummary from RefSeq, UniProt

This gene is a member of the TAFA family which is composed of five highly homologous genes that encode small secreted proteins. These proteins contain conserved cysteine residues at fixed positions, and are distantly related to MIP-1alpha, a member of the CC-chemokine family. The TAFA proteins are predominantly expressed in specific regions of the brain, and are postulated to function as brain-specific chemokines or neurokines, that act as regulators of immune and nervous cells. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Nov 2011]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.29

LOEUF

Mechanism· predicted