ALKBH8 Chromosome 11
AlkB homolog 8, tRNA methyltransferase
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What This Gene Does
Enables tRNA (uridine) methyltransferase activity; tRNA binding activity; and zinc ion binding activity. Involved in DNA damage response; tRNA methylation; and tRNA wobble uridine modification. Located in cytosol and nucleoplasm. Implicated in autosomal recessive intellectual developmental disorder 71. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Alkylation repair homologs|RNA binding motif containing|7BS DNA/RNA methyltransferases|DNA/RNA methyltransferases"
Locus Type
gene with protein product
Location
11q22.3
Ensembl
ENSG00000137760
Associated Conditions (3)
Intellectual developmental disorder
autosomal recessive 71
ALKBH8-related disorder
Key Variants
RS375189195
Conflicting classifications of pathogenicity
Intellectual developmental disorder, autosomal recessive 71, Intellectual developmental disorder
Health Risk
RS61746596
Conflicting classifications of pathogenicity
ALKBH8-related disorder, ALKBH8-related disorder
Health Risk
RS1565312540
Likely pathogenic
Intellectual developmental disorder, autosomal recessive 71, Intellectual developmental disorder
Health Risk
RS1591267688
Likely pathogenic
Intellectual developmental disorder, autosomal recessive 71, Intellectual developmental disorder
Health Risk
RS1863313985
Likely pathogenic
Health Risk
RS1591234203
Pathogenic
Intellectual developmental disorder, autosomal recessive 71, Intellectual developmental disorder
Health Risk
RS2496312636
Pathogenic
Intellectual developmental disorder, autosomal recessive 71, Intellectual developmental disorder
Health Risk
RS1315421427
Pathogenic/Likely pathogenic
Intellectual developmental disorder, autosomal recessive 71, Intellectual developmental disorder
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS375189195 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder, autosomal recessive 71, Intellectual developmental disorder |
| RS61746596 | Health Risk | Conflicting classifications of pathogenicity | ALKBH8-related disorder, ALKBH8-related disorder |
| RS1565312540 | Health Risk | Likely pathogenic | Intellectual developmental disorder, autosomal recessive 71, Intellectual developmental disorder |
| RS1591267688 | Health Risk | Likely pathogenic | Intellectual developmental disorder, autosomal recessive 71, Intellectual developmental disorder |
| RS1863313985 | Health Risk | Likely pathogenic | — |
| RS1591234203 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal recessive 71, Intellectual developmental disorder |
| RS2496312636 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal recessive 71, Intellectual developmental disorder |
| RS1315421427 | Health Risk | Pathogenic/Likely pathogenic | Intellectual developmental disorder, autosomal recessive 71, Intellectual developmental disorder |