KCTD17

This gene encodes a protein that belongs to a conserved family of potassium channel tetramerization domain (KCTD)-containing proteins. The encoded protein functions in ciliogenesis by acting as a substrate adaptor for the cullin3-based ubiquitin-conjugating enzyme E3 ligase, and targets trichoplein, a keratin-binding protein, for degradation via polyubiquitinylation. A mutation in this gene is associated with autosomal dominant myoclonic dystonia 26. [provided by RefSeq, Nov 2016]

Description

Potassium channel tetramerization domain containing 17

Tissue specificity

Tissue enhanced (brain)

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)

Chromosome

22 (37051736 - 37063390)

Ensembl ID

ENSG00000100379  (ver. 103.38)

Orthologs

Mouse Kctd17: ENSMUSG00000033287

UniProt

Q8N5Z5

neXtProt

NX_Q8N5Z5

Human splice variants
Mouse splice variants

Protein structure