Na(+)/H(+) exchange regulatory cofactor NHE-RF3 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 ...
that in humans is encoded by the ''PDZK1''
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 ...
.
Interactions
PDZK1 has been shown to
interact
Advocates for Informed Choice, dba interACT or interACT Advocates for Intersex Youth, is a 501(c)(3) nonprofit organization using innovative strategies to advocate for the legal and human rights of children with intersex traits. The organizati ...
with:
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AKAP10,
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CLCN3
H+/Cl− exchange transporter 3 is a protein that in humans is encoded by the ''CLCN3'' gene.
Interactions
CLCN3 has been shown to interact with PDZK1.
See also
* Chloride channel
Chloride channels are a superfamily of poorly understood i ...
,
*
Cystic fibrosis transmembrane conductance regulator
Cystic fibrosis transmembrane conductance regulator (CFTR) is a membrane protein and anion channel in vertebrates that is encoded by the ''CFTR'' gene.
Geneticist Lap-Chee Tsui and his team identified the CFTR gene in 1989 as the gene linked wi ...
FARP2
FERM, RhoGEF and pleckstrin domain-containing protein 2 is a protein that in humans is encoded by the ''FARP2'' gene.
Model organisms
Model organisms have been used in the study of FARP2 function. A conditional knockout mouse line, called ''Fa ...
,[
* ]PDZK1IP1
PDZK1-interacting protein 1 is a protein that in humans is encoded by the ''PDZK1IP1'' gene.
Interactions
PDZK1IP1 has been shown to interact with PDZK1
Na(+)/H(+) exchange regulatory cofactor NHE-RF3 is a protein that in humans is encoded by ...
,SLC22A12
Solute carrier family 22 (organic anion/cation transporter), member 12, also known as SLC22A12 and URAT1, is a protein which in humans is encoded by the ''SLC22A12'' gene.
Function
The protein encoded by this gene is a uric acid, urate transpor ...
,[
* ]SLC22A4
Solute carrier family 22, member 4, also known as SLC22A4, is a human gene; the encoded protein is known as the ergothioneine transporter.
Function
The encoded protein is an integral protein of the plasma membrane containing 12 transmembrane se ...
,[
* ]SLC34A3
Sodium-dependent phosphate transport protein 2C is a protein that in humans is encoded by the ''SLC34A3'' gene.
Function
SLC34A3 contributes to the maintenance of inorganic phosphate concentration at the kidney.
Interactions
SLC34A3 has be ...
,[
* SLK,][ and
* ]Sodium-hydrogen antiporter 3 regulator 1
Sodium-hydrogen antiporter 3 regulator 1 is a regulator of Sodium-hydrogen antiporter 3. It is encoded by the gene ''SLC9A3R1''. It is also known as ERM Binding Protein 50 (EBP50) or Na+/H+ Exchanger Regulatory Factor (NHERF1). It is believed t ...
.[
]
Related gene problems
*TAR syndrome
TAR syndrome (thrombocytopenia with absent radius) is a rare genetic disorder that is characterized by the absence of the radius bone in the forearm and a dramatically reduced platelet count.
Signs and symptoms
* Presents with symptoms of thro ...
1q21.1 deletion syndrome
1q21.1 deletion syndrome is a rare aberration of chromosome 1. A human cell has one pair of identical chromosomes on chromosome 1. With the 1q21.1 deletion syndrome, one chromosome of the pair is not complete, because a part of the sequence of the ...
*1q21.1 duplication syndrome
1q21.1 duplication syndrome or 1q21.1 (recurrent) microduplication is a rare aberration of chromosome 1.
In a common situation a human cell has one pair of identical chromosomes on chromosome 1. With the 1q21.1 duplication syndrome one chromosome ...
References
Further reading
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