KCTD7_HUMAN
Source:
PM23856902
Marked as 'Membrane associated protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
KCTD7
Protein names and data:
KCTD7_HUMAN
, BTB/POZ domain-containing protein KCTD7
Lenght: 289 a.a.
Mass: 33132 Da
fasta formatted sequence
Function:
May be involved in the control of excitability of cortical neurons (By similarity).
Disease:
( OMIM:
611725
611726
)
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. 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).
Cellular location:
Cell membrane. Cytoplasm, cytosol.
Genetic variants
84 - 84
R -> W (probable disease-associated mutation found in a patient with opsoclonus-myoclonus ataxia-like syndrome). VAR_068775
94 - 94
R -> W (in EPM3). VAR_068776
108 - 108
L -> M (in EPM3). VAR_068777
115 - 115
D -> Y (in EPM3; uncertain pathological significance). VAR_068778
184 - 184
R -> C (in EPM3; results in markedly diminished localization at the cell membrane and appearence of prominent cytoplasmic aggregates). VAR_068779
273 - 273
N -> I (in EPM3). VAR_068780
Database cross-references
UniProt:
Q96MP8
Ensembl:
ENST00000275532
Ensembl:
ENST00000443322
MIM:
611725
MIM:
611726
neXtProt:
NX_Q96MP8
Antibodypedia:
Q96MP8
(may not find the protein thus also not any antibody)
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