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EDAR
SNP Table
| variant | genotype | frequency | risk allele |
|---|---|---|---|
| rs140661471 | |||
| rs393987 | |||
| rs6711767 | |||
| rs4676230 | |||
| rs260630 | |||
| rs115793269 | |||
| rs116475987 | |||
| rs146045550 | |||
| rs260675 | |||
| rs55796074 | |||
| rs56135111 | |||
| rs56219654 | |||
| rs72154843 | |||
| rs75147553 | |||
| rs77304476 | |||
| rs114131032 | |||
| rs115850901 | |||
| rs183780 | |||
| rs2378227 | |||
| rs260598 |
Find on This Page
Summary
EDAR encodes a protein that stimulates NF-kB, thereby promoting fetal development of skin, hair, nails, and teeth. A variant of EDAR may play a role in male-pattern baldness by producing dysfunctional EDAR and significantly lowering the production of NF-kB (R).
Lifestyle and diet modifications may counteract the effects of this variant by slightly boosting or preventing a decrease in NF-kB activity.
Protein names
Found in These Blog Articles
GHR Function
The EDAR gene provides instructions for making a protein called the ectodysplasin A receptor. This protein is part of a signaling pathway that plays an important role in development before birth. Specifically, it is critical for interactions between two embryonic cell layers called the ectoderm and the mesoderm. In the early embryo, these cell layers form the basis for many of the body's organs and tissues. Ectoderm-mesoderm interactions are essential for the formation of several structures that arise from the ectoderm, including the skin, hair, nails, teeth, and sweat glands.
The ectodysplasin A receptor interacts with a protein called ectodysplasin A1 (produced from the EDA gene). On the cell surface, ectodysplasin A1 attaches to this receptor like a key in a lock. When these two proteins are connected, they trigger a series of chemical signals that affect cell activities such as division, growth, and maturation. Before birth, this signaling pathway controls the formation of ectodermal structures such as hair follicles, sweat glands, and teeth.
More Information
The EDAR gene codes for ectodysplasin A receptor (EDAR). As its name suggests, EDAR binds ectodysplasin A, a protein essential for the development of the outermost layer of cells in the body (ectoderm). The development of the ectoderm gives rise to structures such as skin, nails, teeth, and hair [R].
Indeed, rare mutations in the EDAR gene may result in dysfunctional EDAR and abnormal ectoderm development. These mutations have been linked to hypohidrotic ectodermal dysplasia, a genetic disorder characterized by dry skin, reduced number of teeth, and sparse hair [R, R].
Interestingly, the activation of EDAR has been reported to stimulate NF-kB. Although NF-kB is a well-known inflammatory protein, its activity may also be important for the development of hair follicles, in which NF-kB may specifically promote cell survival [R, R].
Variants of EDAR have been associated with male-pattern baldness. These variants may produce dysfunctional EDAR, which may lower the activation of NF-kB and promote hair loss [R, R, R].
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