L3MBTL1 Chromosome 20
L3MBTL histone methyl-lysine binding protein 1
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What This Gene Does
This gene represents a polycomb group gene. The encoded protein functions to regulate gene activity, likely via chromatin modification. The encoded protein may also be necessary for mitosis. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]
Gene Info
Gene Group
"Sterile alpha motif domain containing|Zinc fingers C2H2C-type|MBT domain containing"
Locus Type
gene with protein product
Location
20q13.12
Ensembl
ENSG00000185513
Associated Conditions (1)
Inborn genetic diseases
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2019606024 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |