Aliases for PLEKHM1 Gene
External Ids for PLEKHM1 Gene
Previous GeneCards Identifiers for PLEKHM1 Gene
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]
GeneCards Summary for PLEKHM1 Gene
PLEKHM1 (Pleckstrin Homology Domain Containing, Family M (With RUN Domain) Member 1) is a Protein Coding gene. Diseases associated with PLEKHM1 include osteopetrosis, autosomal recessive 6 and plekhm1-related autosomal recessive osteopetrosis. GO annotations related to this gene include phospholipid binding. An important paralog of this gene is KIAA0226L.
UniProtKB/Swiss-Prot for PLEKHM1 Gene
Involved in vesicular transport in the osteoclast (By similarity). May have a role in sialyl-lex-mediated transduction of apoptotic signals.