8q11.23 Copy Number Variation
Description
RB1CC1, located on chromosome 8q11.23, is mainly involved in autophagy regulation (MIM#606837). A loss of function or mutation in the gene can result in increased risk for schizophrenia (Degenhardt et al., 2013; Errichiello et al., 2020).
Genomic location
Assembly:
Coordinates:
Disorder Information from Orphanet
This CNV is not yet linked to an OrphaCode.
Molecular pathway
Gene Information
| HGNC | Gene Name | NCBI | Ensembl | UniProt |
|---|---|---|---|---|
| RB1CC1 | RB1 inducible coiled-coil 1 | 9821 | ENSG00000023287 | Q8TDY2 |
Evidence
- Loading citation... [PMID: 26151896]
- Loading citation... [PMID: 33340270]