InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: KCTD7

Summary

InnateDB Protein

IDBP-376893.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

KCTD7

Protein Name

potassium channel tetramerisation domain containing 7

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000411624

InnateDB Gene

IDBG-408379 (KCTD7)

Protein Structure

UniProt Annotation

Function

May be involved in the control of excitability of cortical neurons. {ECO:0000250}.

Subcellular Localization

Cell membrane. Cytoplasm, cytosol.

Disease Associations

Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (EPM3) [MIM:611726]: An autosomal recessive, severe, progressive myoclonic epilepsy with early onset. Multifocal myoclonic seizures begin between 16 and 24 months of age after normal initial development. Neurodegeneration and regression occur with seizure onset. Other features include mental retardation, dysarthria, truncal ataxia, and loss of fine finger movements. EEG shows slow dysrhythmia, multifocal and occasionally generalized epileptiform discharges. In some patients, ultrastructural findings on skin biopsies identify intracellular accumulation of autofluorescent lipopigment storage material, consistent with neuronal ceroid lipofuscinosis. {ECO:0000269PubMed:17455289, ECO:0000269PubMed:22606975, ECO:0000269PubMed:22693283, ECO:0000269PubMed:22748208}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=Defects in KCTD7 are a cause of opsoclonus-myoclonus ataxia-like syndrome. Opsoclonus myoclonus ataxia syndrome (OMS) is a rare pervasive and frequently permanent disorder that usually develops in previously healthy children with normal premorbid psychomotor development and characterized by association of abnormal eye movements (opsoclonus), severe dyskinesia (myoclonus), cerebellar ataxia, functional regression, and behavioral problems. The syndrome is considered to be an immune- mediated disorder and may be tumor-associated or idiopathic. OMS is one of a few steroid responsive disorders of childhood. KCTD7 mutations have been found in a patient with an atypical clinical presentation characterized by non-epileptic myoclonus and ataxia commencing in early infancy, abnormal opsoclonus-like eye movements, improvement of clinical symptoms under steroid treatment, and subsequent development of generalized epilepsy (PubMed:22638565). {ECO:0000269PubMed:22638565}.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.