DISC1 Chromosome 1
DISC1 scaffold protein
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What This Gene Does
This gene encodes a protein with multiple coiled coil motifs which is located in the nucleus, cytoplasm and mitochondria. The protein is involved in neurite outgrowth and cortical development through its interaction with other proteins. This gene is disrupted in a t(1;11)(q42.1;q14.3) translocation which segregates with schizophrenia and related psychiatric disorders in a large Scottish family. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Associated Conditions (1)
DISC1-related disorder
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS147261047 | Health Risk | Conflicting classifications of pathogenicity | DISC1-related disorder, DISC1-related disorder |