Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Ensembl
	HGNC	UniGene	Nucleotide	OMIM	UCSC

Home Page

FLASH GENE

Symbol

ADARB1

contributors: mct/ - updated : 22-10-2018

HGNC name	adenosine deaminase, RNA-specific, B1
HGNC id	226

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

NEDHYMS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   is a profound pathological change relevant to death of motor neurons in Amyotrophic lateral sclerosis ( constitutional       loss of function loss of ADARB1 activity causes AMPA receptor-mediated death of motor neurons tumoral     --low   in astrocytoma, decrease in ADARB1 editing activity that seems to correlate with the grade of malignancy in children tumoral       loss of function transcripts with exon 5a, which generate an ADARB1 isoform with ~50p 100 reduced activity, were predominantlyexpressed in the glioma cell lines, whereas transcripts without exon 5a were predominantly expressed in normal human astrocytes constitutional     --low   ADAR2-reduction is associated with progressive deterioration of nuclear architecture, resulting in vacuolated nuclei due to a Ca(2+)-permeable AMPA receptor-mediated mechanism

Susceptibility

Variant & Polymorphism other

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed miscelleaneous pain   potential therapeutic target for the treatment of neuropathic pain cancer brain   ADARB1 or its substrates may represent a suitable target(s) for possible novel, more effective and less toxic approaches to the treatment of

ANIMAL & CELL MODELS