PLEKHM1 Chromosome 17
Pleckstrin homology and RUN domain containing M1
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What This Gene Does
The protein encoded by this gene is essential for bone resorption, and may play a critical role in vesicular transport in the osteoclast. Mutations in this gene are associated with autosomal recessive osteopetrosis type 6 (OPTB6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]
Gene Info
Gene Group
Pleckstrin homology domain containing
Locus Type
gene with protein product
Location
17q21.31
Ensembl
ENSG00000225190
Associated Conditions (3)
Osteopetrosis
autosomal dominant 3
Autosomal recessive osteopetrosis 6
Key Variants
RS1304090710
Likely pathogenic
Osteopetrosis, autosomal dominant 3, Osteopetrosis
Health Risk
RS1567759023
Pathogenic
Osteopetrosis, autosomal dominant 3, Osteopetrosis
Health Risk
RS559224144
Pathogenic
Osteopetrosis, autosomal dominant 3, Osteopetrosis
Health Risk
RS786205055
Pathogenic
Autosomal recessive osteopetrosis 6, Autosomal recessive osteopetrosis 6
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1304090710 | Health Risk | Likely pathogenic | Osteopetrosis, autosomal dominant 3, Osteopetrosis |
| RS1567759023 | Health Risk | Pathogenic | Osteopetrosis, autosomal dominant 3, Osteopetrosis |
| RS559224144 | Health Risk | Pathogenic | Osteopetrosis, autosomal dominant 3, Osteopetrosis |
| RS786205055 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 6, Autosomal recessive osteopetrosis 6 |