Developmental Brain Disorder Gene Database
LoF Variant Gene
- Unique Cases:
- ID, ASD, EP, ADHD, SCZ, BD, CP
- Last Updated:
- September 1, 2022
- DBD Genes Classification
- MBD5 is a High Confidence candidate gene classified as Tier 1. Tier 1 genes have three or more de novo pathogenic loss-of-function variants.
- Gene Function
- Binds to heterochromatin. Does not interact with either methylated or unmethylated DNA (in vitro). (Source: Uniprot)
- Previous symbols
- No previous symbols
- Alias symbols
- FLJ11113, KIAA1461
- Chromosomal Location
- Genomic Coordinates
- Associated Disorders
- Intellectual Disability, Autism, Epilepsy, Attention Deficit Hyperactivity Disorder, Cerebral Palsy
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