InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SZT2

Summary

InnateDB Protein

IDBP-97456.7

Last Modified

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

Gene Symbol

SZT2

Protein Name

Protein SZT2

Synonyms

C1orf84; EIEE18; KIAA0467; SZT2A; SZT2B;

Species

Homo sapiens

Ensembl Protein

ENSP00000361528

InnateDB Gene

IDBG-97454 (SZT2)

Protein Structure

UniProt Annotation

Function

Involved in oxidative stress. May be involved in superoxide dismutase activity and in neuroprotective effect of peroxisomes, but has no direct dismutase activity when tested in yeast. May enhance epileptogenesis and confer low seizure threshold (By similarity). {ECO:0000250}.

Subcellular Localization

Peroxisome {ECO:0000250}.

Disease Associations

Epileptic encephalopathy, early infantile, 18 (EIEE18) [MIM:615476]: A severe autosomal recessive neurologic disorder characterized by lack of psychomotor development apparent from birth, dysmorphic facial features, early onset of refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging. {ECO:0000269PubMed:23932106}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in the brain, predominantly in the parietal and frontal cortex, as well as in dorsal root ganglia. Expressed in peripheral white blood cells. {ECO:0000269PubMed:20045724, ECO:0000269PubMed:23932106}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003674	molecular_function

Biological Process

GO:0007417	central nervous system development
GO:0009790	embryo development
GO:0009791	post-embryonic development
GO:0021540	corpus callosum morphogenesis
GO:1901668	regulation of superoxide dismutase activity