THAP11

Chr 16ARAD

THAP domain containing 11

Also known as: CTG-B43a, CTG-B45d, HRIHFB2206, MAHCL, RONIN, SCA51

NCBI Gene: 57215 ENSG00000168286 UniProt: Q96EK4 OMIM: 609119

This transcription factor regulates gene expression and chromatin accessibility, with particular importance for mitochondrial development, cobalamin metabolism, and neural development. Mutations cause methylmalonic aciduria with homocystinuria (cblL type) and spinocerebellar ataxia 51, with both autosomal recessive and autosomal dominant inheritance patterns reported. The gene is highly constrained against loss-of-function variants, reflecting its essential role in cellular metabolism and neurological function.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene contains a THAP domain, which is a conserved DNA-binding domain that has striking similarity to the site-specific DNA-binding domain (DBD) of Drosophila P element transposases. [provided by RefSeq, Jul 2008]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Methylmalonic aciduria and homocystinuria, cblL typeMIM #620940

Spinocerebellar ataxia 51MIM #620947

Clinical highlights

Gene-disease validity (ClinGen)

methylmalonic aciduria and homocystinuria · ARLimitednot for standalone diagnostic reporting

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

0.47

LOEUF

LOF

Mechanism· predicted

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GeneReview available — THAP11