KCTD17 - potassium channel tetramerization domain containing 17 Gene

Homo sapiens

Gene ID: 79734 | Gene type: protein coding

About KCTD17

Cytogenetic location: 22q12.3 Genomic coordinates (GRCh38): 22:37,051,742-37,063,390 (from NCBI)

This gene has 9 transcripts (splice variants), 194 orthologues, 3 paralogues and is associated with 2 phenotypes. Broad expression in brain (RPKM 11.5), testis (RPKM 10.6) and 22 other tissues.

Summary

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]

KCTD17 Products(4)

mRNA	Protein	Name
NM_001282684.2	NP_001269613.2	BTB/POZ domain-containing protein KCTD17 isoform 1
NM_001282685.2	NP_001269614.2	BTB/POZ domain-containing protein KCTD17 isoform 3
NM_001282686.2	NP_001269615.2	BTB/POZ domain-containing protein KCTD17 isoform 4
NM_024681.4	NP_078957.3	BTB/POZ domain-containing protein KCTD17 isoform 2

KCTD17 Protein Structure

BTB_2

0
100
200
300
321 a.a.

Protein Preferred Names

Protein Names

BTB/POZ domain-containing protein KCTD17

Related Diseases

Diseases

Alias

Dystonia 26, Myoclonic

Myoclonic Dystonia 26

DYT26

Dystonia 11, Myoclonic

Myoclonic Dystonia	Myoclonus-Dystonia Syndrome
DYT11	Myoclonic Dystonia 11
Alcohol-Responsive Dystonia	Myoclonus, Hereditary Essential
Dystonia-11, Myoclonic	Myoclonus-Dystonia
Dystonia 11	Hereditary Essential Myoclonus
Dystonia, Alcohol-Responsive	Dyt-Sgce
Dystonia, Alcohol Responsive	Dystonia-11
Dystonia, Myoclonic	Dystonia, Myoclonic, Type 11

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

Parkinson Disease 20, Early-Onset

Early-Onset Parkinson Disease 20	PARK20
Parkinson'S Disease 20	Early-Onset Parkinson'S Disease 20
Parkinson Disease, Type 20, Early-Onset

Episodic Kinesigenic Dyskinesia 2

EKD2	Dystonia 19
Dyt19

Scalp-Ear-Nipple Syndrome

Finlay-Marks Syndrome	Sen Syndrome
SENS	Scalp Ear Nipple Syndrome
Hereditary Syndrome Of Lumpy Scalp, Odd Ears And Rudimentary Nipples	Hereditary Syndrome Of Lumpy Scalp, Odd Ears, And Rudimentary Nipples
Indian Childhood Cirrhosis

Ceroid Lipofuscinosis, Neuronal, 7

CLN7	Neuronal Ceroid Lipofuscinosis 7
Cln7 Disease	Cln7 Disease, Late Infantile
Mfsd8-Related Neuronal Ceroid Lipofuscinosis	Turkish Variant Late Infantile Ncl
Lipofuscinosis, Ceroid, Neuronal, Type 7

Spasmodic Dystonia

Laryngeal Dystonia

Segmental Dystonia

Dystonia 3, Torsion, X-Linked

X-Linked Dystonia-Parkinsonism	DYT3
Xdp	Lubag
Dystonia-Parkinsonism, X-Linked	Torsion Dystonia-Parkinsonism, Filipino Type
Dyt-Taf1	X-Linked Dystonia-Parkinsonism Syndrome
X-Linked Torsion Dystonia-Parkinsonism Syndrome	Dystonia Musculorum Deformans
X-Linked Dystonia-Parkinsonism/Lubag	Lubag Syndrome
Dystonia-3	Torsion Dystonia-Parkinsonism Filipino Type
X-Linked Torsion Dystonia 3	Dystonia, Torsion, X-Linked, Type 3

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07194	KCTD17 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	KCTD17	MGD	MGI:1920094
Rattus norvegicus	KCTD17	RGD	RGD:1311154
Felis catus	KCTD17	VGNC	VGNC:63057
Macaca mulatta	KCTD17	VGNC	VGNC:73909
Canis familiaris	KCTD17	VGNC	VGNC:54152
Bos taurus	KCTD17	VGNC	VGNC:30506

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