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Protein-coding gene in the species Homo sapiens
Pleckstrin homology domain-containing family M member 1 also known as PLEKHM1 is a protein that in humans is encoded by the PLEKHM1 gene .[ 5] [ 6]
PLEKHM1 may have critical function in vesicular transport in osteoclasts .[ 7]
PLEKHM1 contains a C-terminal Rubicon Homology (RH) domain , which mediates interaction with small GTPase Rab7 .[ 8] [ 9] Rubicon and Pacer , which are autophagy regulators.[ 10] [ 11] [ 9]
Clinical significance [ edit ] Mutations in the PLEKHM1 gene are associated with osteopetrosis OPTB6.[ 7]
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