Pleckstrin homology domain-containing family M member 1 also known as PLEKHM1 is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, res ...
that in humans is encoded by the ''PLEKHM1''
gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
Function
PLEKHM1 may have critical function in
vesicular transport in
osteoclast
An osteoclast () is a type of bone cell that breaks down bone tissue. This function is critical in the maintenance, repair, and remodeling of bones of the vertebral skeleton. The osteoclast disassembles and digests the composite of hydrated pro ...
s.
PLEKHM1 contains a C-terminal
Rubicon Homology (RH) domain, which mediates interaction with
small GTPase Rab7.
This domain is shared with family RH domain containing family members
Rubicon
The Rubicon ( la, Rubico; it, Rubicone ; rgn, Rubicôn ) is a shallow river in northeastern Italy, just north of Rimini.
It was known as Fiumicino until 1933, when it was identified with the ancient river Rubicon, famously crossed by Julius Ca ...
and
Pacer, which are autophagy regulators.
Clinical significance
Mutations in the PLEKHM1 gene are associated with
osteopetrosis
Osteopetrosis, literally "stone bone", also known as marble bone disease or Albers-Schönberg disease, is an extremely rare inherited disorder whereby the bones harden, becoming denser, in contrast to more prevalent conditions like osteoporosis ...
OPTB6.
References
Further reading
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