ALKBH5 alkB homolog 5, RNA demethylase

Gene ID: 54890, updated on 2-Nov-2024
Gene type: protein coding
Also known as: ABH5; OFOXD; OFOXD1

Summary

Enables mRNA N6-methyladenosine dioxygenase activity and molecular condensate scaffold activity. Involved in non-membrane-bounded organelle assembly; post-transcriptional regulation of gene expression; and response to hypoxia. Acts upstream of or within regulation of mRNA export from nucleus and regulation of mRNA processing. Located in Golgi apparatus; cytosol; and nuclear speck. Is active in paraspeckles. [provided by Alliance of Genome Resources, Nov 2024]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available

Genomic context

Location:: 17p11.2; 17p11.2

Sequence:: Chromosome: 17; NC_000017.11 (18183828..18209954)

Total number of exons:: 4

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for ALKBH5 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
Variation Viewer
Related Variants

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