What does R Spondin do?
What does R Spondin do?
R-spondin-1 is a secreted protein that in humans is encoded by the Rspo1 gene, found on chromosome 1. In humans, it interacts with WNT4 in the process of female sex development. Loss of function can cause female to male sex reversal. Furthermore, it promotes canonical WNT/β catenin signaling.
Where is Spondin 1 found?
Spondin-1 (also known as F-spondin) is a protein that in humans is encoded by the SPON1 gene. It is secreted by cells of the floor plate and may be involved in axon guidance The protein contains 807 amino acids and is structurally composed of six thrombospondin domains, one reelin domain, and one spondin domain.
What does WNT4 stand for?
WNT family member 4 (WNT4), which belongs to the conserved WNT protein family, plays an important role in the development and differentiation of many cell types during the embryonic development and adult homeostasis.
What is a canonical pathway?
In the description of biochemcal pathways, the term “Canonical Pathway” refers to idealized or generalized pathways conforming to or describing common properties of a particular signaling module or pathway, which may also include “specific pathways”, for example, specific to tissues or cell lines, as well as others.
Is SOX9 a transcription factor?
The SOX9 protein attaches (binds) to specific regions of DNA and regulates the activity of other genes, particularly those that control skeletal development and sex determination. On the basis of this action, the SOX9 protein is called a transcription factor.
What happens when WNT4 genes are activated?
WNT4 is a secreted molecule that binds to members of the frizzled family of receptors, resulting in transcriptional regulation of target genes. WNT4 increases follistatin expression, which inhibits formation of the coelomic vessel (anti-testis action) and supports ovarian germ cell survival (pro-ovarian action).
What is the phenotype of loss of function mutations in WNT4?
Loss-of-function mutations in the WNT4 gene appear to cause developmental abnormalities of sexual differentiation in women and mice.
What is a canonical protein?
A canonical sequence is a sequence of DNA, RNA, or amino acids that reflects the most common choice of base or amino acid at each position. ⁕It is the most similar to orthologous sequences found in other species.
What is canonical in medical terms?
As much as I know, the canonical pathway means which signaling pathway is constitutively active (naturally occurring inside the body, cells, or tissue). Non-canonical pathway means inducible signaling pathway (might be from drug, chemicals, or xenobiotics from outside of the body).
What does the SOX9 protein do?
The SOX9 protein is especially important for development of the skeleton and plays a key role in the determination of sex before birth. The SOX9 protein attaches (binds) to specific regions of DNA and regulates the activity of other genes, particularly those that control skeletal development and sex determination.
Is Sox2 a protein?
Sox2 is a member of the Sox family of transcription factors, which have been shown to play key roles in many stages of mammalian development. This protein family shares highly conserved DNA binding domains known as HMG (High-mobility group) box domains containing approximately 80 amino acids.
Where is the WNT4 gene located?
WNT4 is a secreted protein that in humans is encoded by the Wnt4 gene, found on chromosome 1. It promotes female sex development and represses male sex development.