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FLASH GENE

Symbol

DTNBP1

contributors: mct - updated : 20-09-2022

HGNC name	dystrobrevin binding protein 1
HGNC id	17328

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

HPS7 , SCZD3

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   in dorsolateral prefrontal cortex and hippocampus of schizophrenic patients constitutional     --low   in brain areas of schizophrenic patients constitutional     --low   in the hippocampus and prefrontal cortex in post mortem brains of schizophrenic patients

Susceptibility

to schizophrenia (rs1011313) to intelligence variation to bipolar disorder to temporal lobe epilepsy (TLE)

Variant & Polymorphism SNP	influencing intelligence variation
	association of schizophrenia with SNPs at the 3' end of DTNBP1
	haplotype increasing the risk of bipolar disorder
	mutant allele rs2619538 T > A was exclusively observed in TLE patients

Candidate gene	candidate gene for SCZD3
Marker
Therapy target

ANIMAL & CELL MODELS

Sandy (sdy) mice that express no dysbindin, owing to a deletion of the DTNBP1 gene showed behavioral abnormalities such as reduced activity, heightened anxiety-like response, and deficits in social interaction, memory, and learning