L3MBTL2 Chromosome 22
L3MBTL histone methyl-lysine binding protein 2
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What This Gene Does
Enables methylated histone binding activity. Predicted to be involved in negative regulation of DNA-templated transcription. Predicted to act upstream of or within several processes, including ectoderm development; stem cell differentiation; and stem cell proliferation. Located in nucleus. [provided by Alliance of Genome Resources, Apr 2025]
Gene Info
Gene Group
MBT domain containing
Locus Type
gene with protein product
Location
22q13.2
Ensembl
ENSG00000100395
Associated Conditions (1)
Non-obstructive azoospermia
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS551286952 | Health Risk | Pathogenic | Non-obstructive azoospermia, Non-obstructive azoospermia |