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KRABD4

Chr X

KRAB domain containing 4

Also known as: KRBOX4, ZNF673

NCBI Gene: 55634UniProt: Q5JUW0OMIM: 300585

KRABD4 encodes a zinc finger protein with a KRAB domain that functions as a transcriptional repressor. Mutations cause nonsyndromic X-linked intellectual disability. The gene follows X-linked inheritance patterns.

OMIMResearchSummary from RefSeq
Clinical Summary— KRABD4
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Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/KRABD4?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

KRABD4 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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No publications found for KRABD4

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients