TAF1L

Chr 9

TATA-box binding protein associated factor 1 like

Also known as: TAF(II)210, TAF2A2

NCBI Gene: 138474 ENSG00000122728 UniProt: Q8IZX4

The protein functions as a substitute for TAF1 during male meiosis when sex chromosomes are transcriptionally silenced, serving as a key transcriptional regulator in male germ cells. Mutations cause X-linked intellectual disability, and the gene shows high constraint against loss-of-function variants (pLI 0.96, LOEUF 0.32). The condition follows X-linked recessive inheritance.

ResearchSummary from RefSeq, UniProt

This locus is intronless, and apparently arose in the primate lineage from retrotransposition of the transcript from the multi-exon TAF1 locus on the X chromosome. The gene is expressed in male germ cells, and the product has been shown to function interchangeably with the TAF1 product. [provided by RefSeq, Aug 2015]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.32

LOEUF· LoF intol.

LOF

Mechanism· predicted

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