Entity Details

Primary name PLEKHM1
Entity type gene
Source Source Link

Details

PrimaryID9842
RefseqGeneNG_012932
SymbolPLEKHM1
Namepleckstrin homology and RUN domain containing M1
Chromosome17
Location17q21.31
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-11-30
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsPKHM1_HUMAN

GO terms

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GOName
GO:0005730 nucleolus
GO:0005764 lysosome
GO:0005765 lysosomal membrane
GO:0010008 endosome membrane
GO:0015031 protein transport
GO:0032418 lysosome localization
GO:0035556 intracellular signal transduction
GO:0043231 intracellular membrane-bounded organelle
GO:0044754 autolysosome
GO:0045780 positive regulation of bone resorption
GO:0046872 metal ion binding
GO:0061909 autophagosome-lysosome fusion
GO:1900029 positive regulation of ruffle assembly
GO:1902774 late endosome to lysosome transport

Diseases

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Disease IDSourceNameDescription
611497 OMIMOsteopetrosis, autosomal recessive 6 (OPTB6)A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. The disease is caused by variants affecting the gene represented in this entry.
618107 OMIMOsteopetrosis, autosomal dominant 3 (OPTA3)A form of osteopetrosis, a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and an autosomal dominant form occurring in adolescence or adulthood. OPTA3 is characterized by typical features of osteopetrosis such as fractures after minor trauma, early tooth loss, anemia, hepatosplenomegaly, and a generalized increase in bone mineral density. Some patients exhibit localized osteosclerosis and generalized osteopenia. The disease is caused by variants affecting the gene represented in this entry.