Low-density lipoprotein receptor adapter protein 1 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, respon ...
that in humans is encoded by the ''LDLRAP1''
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 ...
.
The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTB) domain. The PTB domain has been found to interact with the cytoplasmic tail of the
LDL receptor. Mutations in this gene lead to LDL receptor malfunction and cause the disorder autosomal recessive
hypercholesterolaemia.
Interactions
LDLRAP1 has been shown to
interact with
AP2B1 and
LRP2.
References
Further reading
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