Natriuretic peptide receptor B (''NPR2''), also known as atrionatriuretic peptide receptor B and formerly as guanylate cyclase B, is an
atrial natriuretic peptide receptor
An atrial natriuretic peptide receptor is a receptor for atrial natriuretic peptide.
Mechanism
NPRA and NPRB are linked to guanylyl cyclases, while NPRC is G-protein-linked and is a "clearance receptor" that acts to internalise and destroy the ...
which in humans is encoded by the ''NPR2''
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 ...
.
A
mutation
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, ...
in the ''NPR2'' gene can result in
achondroplasia
Achondroplasia is a genetic disorder with an autosomal dominant pattern of inheritance whose primary feature is dwarfism. It is the most common cause of dwarfism and affects about 1 in 27,500 people. In those with the condition, the Rhizomeli ...
and
disproportionate dwarfism with short limbs.
See also
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Atrial natriuretic peptide receptor
An atrial natriuretic peptide receptor is a receptor for atrial natriuretic peptide.
Mechanism
NPRA and NPRB are linked to guanylyl cyclases, while NPRC is G-protein-linked and is a "clearance receptor" that acts to internalise and destroy the ...
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Dwarfism
Dwarfism is a condition of people and animals marked by unusually small size or short stature. In humans, it is sometimes defined as an adult height of less than , regardless of sex; the average adult height among people with dwarfism is . '' ...
References
Further reading
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External links
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EC 4.6.1
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