E3 ubiquitin-protein ligase LRSAM1, previously known as Tsg101-associated ligase (Tal), is an
enzyme
Enzymes () are proteins that act as biological catalysts by accelerating chemical reactions. The molecules upon which enzymes may act are called substrates, and the enzyme converts the substrates into different molecules known as products. A ...
that in humans is encoded by the ''LRSAM1''
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 ba ...
.
Clinical significance
Mutations in ''LRSAM1'' have been reported in the
peripheral neuropathy
Peripheral neuropathy, often shortened to neuropathy, is a general term describing disease affecting the peripheral nerves, meaning nerves beyond the brain and spinal cord. Damage to peripheral nerves may impair sensation, movement, gland, or or ...
Charcot-Marie-Tooth type 2P (OMIM 614436),
while disruption of the mouse ''Lrsam1'' gene has been shown to sensitize peripheral axons to acrylamide-induced degeneration.
Interactions
LRSAM1 has been shown to
interact
Advocates for Informed Choice, dba interACT or interACT Advocates for Intersex Youth, is a 501(c)(3) nonprofit organization using innovative strategies to advocate for the legal and human rights of children with intersex traits. The organizati ...
with
TSG101
Tumor susceptibility gene 101, also known as TSG101, is a human gene that encodes for a cellular protein of the same name.
Function
The protein encoded by this gene belongs to a group of apparently inactive homologs of ubiquitin-conjugating enzy ...
.
References
Further reading
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EC 6.3.2
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