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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for PLEKHM1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID9842
Official gene symbolPLEKHM1
Full namepleckstrin homology domain containing, family M (with RUN domain) member 1
Aliases,AP162,B2,KIAA0356,OPTB6,
Gene summaryThe 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]
LocationChromosome: 17   Locus: 17q21.31
Gene position43568146 - 43513266  Map Viewer
Gene orientationminus
Gene size54881 bp
Gene sequence
OMIM ID611466