KLHL21

Chr 1

kelch like family member 21

NCBI Gene: 9903 ENSG00000162413 UniProt: Q9UJP4 OMIM: 616262

The KLHL21 protein functions as a substrate-specific adapter in the BCR E3 ubiquitin ligase complex, which regulates chromosome alignment and cell division by controlling the localization of the chromosomal passenger complex during mitosis. Mutations cause autosomal recessive intellectual disability with seizures and microcephaly, typically presenting in early childhood. The gene shows low constraint to loss-of-function variation, consistent with its recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, UniProt

Enables cullin family protein binding activity. Contributes to ubiquitin-protein transferase activity. Involved in chromosome passenger complex localization to spindle midzone; protein ubiquitination; and regulation of cytokinesis. Located in centrosome and polar microtubule. Part of Cul3-RING ubiquitin ligase complex. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.13

LOEUF

Multiple*

Mechanism· predicted