TAFA5

Chr 22

TAFA chemokine like family member 5

Also known as: FAM19A5, QLLK5208, TAFA-5, UNQ5208

NCBI Gene: 25817 ENSG00000219438 UniProt: Q7Z5A7 OMIM: 617499

The protein is a small secreted brain-specific chemokine or neurokine that regulates immune and nervous cells, predominantly expressed in specific brain regions. Mutations cause autosomal recessive early-onset epileptic encephalopathy with developmental delay and intellectual disability. The gene shows moderate constraint against loss-of-function variants.

OMIM ResearchSummary from RefSeq

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. [provided by RefSeq, Sep 2013]

OMIM ResearchGenerating clinical summary…

LOEUF 0.86

Clinical Summary— TAFA5

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Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.18) despite low pLI — interpret in context.

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