KLF13

Chr 15

KLF transcription factor 13

Also known as: BTEB3, FKLF2, NSLP1, RFLAT-1, RFLAT1

NCBI Gene: 51621 ENSG00000169926 UniProt: Q9Y2Y9 OMIM: 605328

KLF13 encodes a zinc finger transcription factor that binds to GC-rich DNA sequences to regulate gene expression, including activation of genes in erythroid cells and repression through interaction with corepressor complexes. Mutations cause an autosomal dominant neurodevelopmental disorder with intellectual disability, developmental delay, and variable features including seizures and behavioral abnormalities. The gene has moderate tolerance to loss-of-function variants based on population genetics data.

GeneReviews OMIM ResearchSummary from RefSeq, UniProt

KLF13 belongs to a family of transcription factors that contain 3 classical zinc finger DNA-binding domains consisting of a zinc atom tetrahedrally coordinated by 2 cysteines and 2 histidines (C2H2 motif). These transcription factors bind to GC-rich sequences and related GT and CACCC boxes (Scohy et al., 2000 [PubMed 11087666]).[supplied by OMIM, Mar 2008]

GeneReviews OMIM ResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)

congenital heart disease · ADModerateconsider for supplementary testing

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)

—

P/LP submissions

—

P/LP missense

0.93

LOEUF

LOF

Mechanism· predicted

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GeneReview available — KLF13