ROBO1
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Roundabout homolog 1 is a
protein Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that in humans is encoded by the ''ROBO1''
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 ...
.


Function

Bilateral symmetric nervous systems have special midline structures that establish a partition between the two mirror image halves. Some
axon An axon (from Greek ἄξων ''áxōn'', axis) or nerve fiber (or nerve fibre: see American and British English spelling differences#-re, -er, spelling differences) is a long, slender cellular extensions, projection of a nerve cell, or neuron, ...
s project toward and across the midline in response to long-range chemoattractants emanating from the midline. The protein encoded by ROBO1 is structurally similar to a
Drosophila ''Drosophila'' (), from Ancient Greek δρόσος (''drósos''), meaning "dew", and φίλος (''phílos''), meaning "loving", is a genus of fly, belonging to the family Drosophilidae, whose members are often called "small fruit flies" or p ...
integral membrane protein An integral, or intrinsic, membrane protein (IMP) is a type of membrane protein that is permanently attached to the biological membrane. All transmembrane proteins can be classified as IMPs, but not all IMPs are transmembrane proteins. IMPs comp ...
which is encoded by the Drosophila roundabout gene (a member of the
immunoglobulin An antibody (Ab) or immunoglobulin (Ig) is a large, Y-shaped protein belonging to the immunoglobulin superfamily which is used by the immune system to identify and neutralize antigens such as pathogenic bacteria, bacteria and viruses, includin ...
gene superfamily) and is both an
axon guidance Axon guidance (also called axon pathfinding) is a subfield of neural development concerning the process by which neurons send out axons to reach their correct targets. Axons often follow very precise paths in the nervous system, and how they mana ...
receptor and a
cell adhesion Cell adhesion is the process by which cells interact and attach to neighbouring cells through specialised molecules of the cell surface. This process can occur either through direct contact between cell surfaces such as Cell_junction, cell junc ...
receptor, known to be involved in the decision by axons to cross the central nervous system midline. Two transcript variants encoding different
isoforms A protein isoform, or "protein variant", is a member of a set of highly similar proteins that originate from a single gene and are the result of genetic differences. While many perform the same or similar biological roles, some isoforms have uniqu ...
have been found for ROBO1.


Clinical significance

''ROBO1'' was implicated in a
communication disorder A communication disorder is any disorder that affects an individual's ability to Speech perception, comprehend, detect, or apply language and speech to engage in dialogue effectively with others. This also encompasses deficiencies in verbal and N ...
based on a Finnish pedigree with severe
dyslexia Dyslexia (), previously known as word blindness, is a learning disability that affects either reading or writing. Different people are affected to different degrees. Problems may include difficulties in spelling words, reading quickly, wri ...
. Analyses revealed a translocation had occurred disrupting ''ROBO1''. Study of the phonological memory component of the language acquisition system suggests that ''ROBO1'' polymorphisms are associated with functioning in this system. The gene is thought to be related to the brain's ability to represent
quantities Quantity or amount is a property that can exist as a multitude or magnitude, which illustrate discontinuity and continuity. Quantities can be compared in terms of "more", "less", or "equal", or by assigning a numerical value multiple of a u ...
, and is correlated with better math scores of young children in one limited study.


References


Further reading

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