SEZ6 Chromosome 17
Seizure related 6 homolog
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What This Gene Does
The protein encoded by this gene is thought to contain five cysteine-rich motifs that are similar to sushi domains, as well as two domains similar to the amino terminal half of the CUB (for complement C1r/C1s, Uegf, Bmp1) domain. Mutations in this gene have been associated with febrile seizures. [provided by RefSeq, Jul 2016]
Gene Info
Gene Group
Sushi domain containing
Locus Type
gene with protein product
Location
17q11.2
Ensembl
ENSG00000063015
Associated Conditions (1)
Childhood-onset schizophrenia
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS863223347 | Health Risk | Likely pathogenic | Childhood-onset schizophrenia, Childhood-onset schizophrenia |