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The information on this page was automatically extracted from online scientific databases.

What is the official name of the PLEKHM1 gene?

The official name of this gene is “pleckstrin homology domain containing, family M (with RUN domain) member 1.”

PLEKHM1 is the gene's official symbol. The PLEKHM1 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the PLEKHM1 gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

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]

From UniProtThis link leads to a site outside Genetics Home Reference.:

Proposed to act as a multivalent adapter protein that regulates Rab7-dependent and HOPS complex-dependent fusion events in the endolysosomal system and couples autophagic and the endocytic trafficking pathways. Required for late stages of endolysosomal maturation, facilitating both endocytosis-mediated degradation of growth factor receptors and autophagosome clearance. Seems to be involved in the terminal maturation of autophagosomes and to mediate autophagosome-lysosome fusion (PubMed:25498145). Involved in vesicular transport in the osteoclast (By similarity). May be involved in negative regulation of endocytic transport from early endosome to late endosome/lysosome implicating its association with Rab7 (PubMed:20943950). May have a role in sialyl-lex-mediated transduction of apoptotic signals (PubMed:12820725). In case of infection contributes to Salmonella typhimurium pathogenesis by supporting the integrity of the Salmonella-containing vacuole (SCV) probably in concert with the HOPS complex and Rab7 (PubMed:25500191).

How are changes in the PLEKHM1 gene related to health conditions?

Genetics Home Reference provides information about osteopetrosis, which is associated with changes in the PLEKHM1 gene.
UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the PLEKHM1 gene's known or predicted involvement in human disease.

Osteopetrosis, 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 mutations affecting the gene represented in this entry.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the PLEKHM1 gene.
  • Osteopetrosis autosomal recessive 6
OMIM.orgThis link leads to a site outside Genetics Home Reference., a catalog designed for genetics professionals and researchers, provides the following information about the PLEKHM1 gene and its association with health conditions.

Where is the PLEKHM1 gene located?

Cytogenetic Location: 17q21.31

Molecular Location on chromosome 17: base pairs 45,434,246 to 45,490,779

The PLEKHM1 gene is located on the long (q) arm of chromosome 17 at position 21.31.

The PLEKHM1 gene is located on the long (q) arm of chromosome 17 at position 21.31.

More precisely, the PLEKHM1 gene is located from base pair 45,434,246 to base pair 45,490,779 on chromosome 17.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about PLEKHM1?

You and your healthcare professional may find the following resources about PLEKHM1 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the PLEKHM1 gene or gene products?

  • AP162
  • B2
  • OPTB6

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding PLEKHM1?

anemia ; autosomal ; autosomal dominant ; autosomal recessive ; benign ; bone marrow ; degradation ; endocytosis ; gene ; growth factor ; hepatosplenomegaly ; infection ; lysosome ; macrocephaly ; mediate ; osteoclast ; protein ; recessive ; transcript ; transduction ; vacuole

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.


The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

Published: September 1, 2015