KLHL17

Chr 1

kelch like family member 17

Also known as: AF

NCBI Gene: 339451 ENSG00000187961 UniProt: Q6TDP4 OMIM: 619262

The protein encoded by KLHL17 serves as a substrate-recognition component of cullin-RING E3 ubiquitin ligase complexes and contains domains that mediate dimerization and F-actin binding, functioning in actin-based neuronal processes. Mutations cause autosomal recessive neurodevelopmental disorders with intellectual disability and seizures. This gene is not highly constrained against loss-of-function variants.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is expressed in neurons of most regions of the brain. It contains an N-terminal BTB domain, which mediates dimerization of the protein, and a C-terminal Kelch domain, which mediates binding to F-actin. This protein may play a key role in the regulation of actin-based neuronal function. [provided by RefSeq, Aug 2010]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.26

LOEUF

Multiple*

Mechanism· predicted