Protocadherin 11 X-linked, also known as PCDH11X, 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, respo ...
which in humans is encoded by the ''PCDH11X''
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 ...
.
Function
This gene belongs to the
protocadherin
Protocadherins (Pcdhs) are the largest mammalian subgroup of the cadherin superfamily of homophilic cell-adhesion proteins. They were discovered by Shintaro Suzuki's group, when they used PCR to find new members of the cadherin family. The PCR fr ...
gene family, a subfamily of the
cadherin
Cadherins (named for "calcium-dependent adhesion") are a type of cell adhesion molecule (CAM) that is important in the formation of adherens junctions to allow cells to adhere to each other . Cadherins are a class of type-1 transmembrane proteins, ...
superfamily. The encoded protein consists of an extracellular domain containing 7 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene is located in a major X/Y block of homology and its Y homolog (
PCDH11Y), despite divergence leading to coding region changes, is the most closely related cadherin family member. The protein is thought to play a fundamental role in
cell–cell recognition
Cell–cell recognition is a cell's ability to distinguish one type of neighboring cell from another.Campbell, et al., Biology, ''Eighth Edition'', 2008 Pearson Education Inc. This phenomenon occurs when complementary molecules on opposing cell s ...
essential for the segmental development and function of the
central nervous system
The central nervous system (CNS) is the part of the nervous system consisting primarily of the brain and spinal cord. The CNS is so named because the brain integrates the received information and coordinates and influences the activity of all par ...
.
Neuronal self-avoidance
Neuronal self-avoidance, or isoneural avoidance, is an important property of neurons which consists in the tendency of branches (dendrites and axons) arising from a single soma (also called isoneuronal or sister branches) to turn away from one ano ...
is intricately linked to
protocadherin
Protocadherins (Pcdhs) are the largest mammalian subgroup of the cadherin superfamily of homophilic cell-adhesion proteins. They were discovered by Shintaro Suzuki's group, when they used PCR to find new members of the cadherin family. The PCR fr ...
activity. It also plays a role in structural cell-to-cell adherence. Transcripts arising from alternative splicing encode isoforms with variable cytoplasmic domains.
Clinical significance
In a
genome-wide association study
In genomics, a genome-wide association study (GWA study, or GWAS), also known as whole genome association study (WGA study, or WGAS), is an observational study of a genome-wide set of Single-nucleotide polymorphism, genetic variants in different i ...
, the PCDH11X gene has been linked as a risk factor in late onset
Alzheimer's disease
Alzheimer's disease (AD) is a neurodegeneration, neurodegenerative disease that usually starts slowly and progressively worsens. It is the cause of 60–70% of cases of dementia. The most common early symptom is difficulty in short-term me ...
,
but other studies on different populations
could not confirm the initial association. The clinical significance of this gene is unclear, and the gene might play different roles in different population specific contexts.
References
Further reading
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