E3 ubiquitin-protein ligase LRSAM1, previously known as Tsg101-associated ligase (Tal), is an
enzyme
An enzyme () is a protein that acts as a biological catalyst by accelerating chemical reactions. The molecules upon which enzymes may act are called substrate (chemistry), substrates, and the enzyme converts the substrates into different mol ...
that in humans is encoded by the ''LRSAM1''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
Clinical significance
Mutations in ''LRSAM1'' have been reported in the
peripheral neuropathy
Peripheral neuropathy, often shortened to neuropathy, refers to damage or disease affecting the nerves. Damage to nerves may impair sensation, movement, gland function, and/or organ function depending on which nerve fibers are affected. Neuropa ...
Charcot-Marie-Tooth type 2P (OMIM 614436),
while disruption of the mouse ''Lrsam1'' gene has been shown to sensitize peripheral axons to
acrylamide
Acrylamide (or acrylic amide) is an organic compound with the chemical formula CH2=CHC(O)NH2. It is a white odorless solid, soluble in water and several organic solvents. From the chemistry perspective, acrylamide is a vinyl-substituted primary ...
-induced degeneration.
Interactions
LRSAM1 has been shown to
interact 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 enz ...
.
References
Further reading
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EC 6.3.2
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