Gene Function

Plays a role as a marker and a regulator of neuronal differentiation; Up-regulated by a variety of neurogenic signals, such as retinoic acid, epidermal growth factor/EGF and NGFB/nerve growth factor. Induces apoptosis, growth arrest and the expression of cyclin-dependent kinase inhibitor CDKN1B. Plays a role as a tumor repressor and inhibits cell growth and tumorigenicity of medulloblastoma (MDB). Acts as a probable substrate-specific adapter for a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex towards HDAC1. Functions as antagonist of the Hedgehog pathway on cell proliferation and differentiation by affecting the nuclear transfer of transcription factor GLI1, thus maintaining cerebellar granule cells in undifferentiated state, this effect probably occurs via HDAC1 down-regulation, keeping GLI1 acetylated and inactive. When knock-down, Hedgehog antagonism is impaired and proliferation of granule cells is sustained. Activates the caspase cascade Source: UniProt

Relationship to CMT

CMTRI AR
1 subtype
17p13.1

First described 2025

Subtype	Inheritance	Class	OMIM	Sentinel Publication
SubtypeCMTRIE	Inheritanceautosomal recessive	ClassCMTRI	OMIMn/a	Sentinel Publication Bi-allelic Mutations in KCTD11 Cause a New Form of Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease 2025 · 10.1101/2025.06.30.661538

Stored Identifiers

HGNC Aliases: C17ORF36

hgnc_idHGNC:21302

ensembl_gene_idENSG00000213859

coords_grch38chr17:7351889-7354944

coords_grch37chr17:7255208-7258258

entrez_id147040

omim_gene609848

uniprot_idsQ693B1

refseq_accessionNM_001002914

mane_refseqNM_001363642.1

mane_ensemblENST00000333751.8

External recordsHGNC:21302OMIM 609848gnomADUniProt Q693B1ClinVar P/LPMANE NM_001363642.1

ClinVar Variants

Pathogenic and likely pathogenic variants in KCTD11, as classified in ClinVar, are read live from NCBI. Only aggregate germline records are shown. Uncertain and conflicting classifications are not. Experts in CMT makes no claim to the accuracy of ClinVar data. This index is provided for informational purposes only.

Review stars are ClinVar’s measure of how well a classification is supported: four for a practice guideline, three for an expert panel review, two for agreement among multiple submitters, one for a single submitter with criteria provided, and none where no criteria were provided.

Reported in CMT

Reported in Other Diseases

Reported in a disease other than CMT. Listed apart rather than counted as CMT variants.

Variants w/o a Recorded Disease

Pathogenic or likely pathogenic in ClinVar, submitted without a disease recorded.

The Dorsal Root

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Evidence failed not because it was wrong, but because it was weaponized. I lived the downstream effects of that failure for more than a decade. This is what happens when medicine forgets that data always ends in a human being.

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