Profilin-1 is a
protein that in humans is encoded by the ''PFN1''
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
The protein encoded by this gene is a ubiquitous actin monomer-binding protein belonging to the profilin family. It is thought to regulate actin polymerization in response to extracellular signals. Deletion of this gene is associated with
Miller-Dieker syndrome.
Mutations in this gene may be a rare cause of
amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease (MND) or Lou Gehrig's disease, is a neurodegenerative disease that results in the progressive loss of motor neurons that control voluntary muscles. ALS is the most comm ...
, also called Lou Gehrig's disease.
Interactions
Profilin 1 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:
*
FMNL1
Formin-like protein 1 is a protein that in humans is encoded by the ''FMNL1'' gene.
This gene encodes a formin-related protein. Formin-related proteins have been implicated in morphogenesis, cytokinesis, and cell polarity. An alternative splice ...
,
*
MLLT4
Afadin is a protein that in humans is encoded by the ''AFDN'' gene.
Function
Afadin is a Ras (see HRAS; MIM 190020) target that regulates cell–cell adhesions downstream of Ras activation. It is fused with MLL (MIM 159555) in leukemias cause ...
*
Vasodilator-stimulated phosphoprotein
Vasodilator-stimulated phosphoprotein is a protein that in humans is encoded by the ''VASP'' gene.
Function
Vasodilator-stimulated phosphoprotein (VASP) is a member of the Ena-VASP protein family. Ena-VASP family members contain an N-termina ...
,
*
WASF1,
and
*
WASL.
References
Further reading
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{{Cytoskeletal Proteins