SHFM3P1

Ideogram human chromosome 22

== SHFM3P1 ==

SHFM3P1 is a gene that encodes a protein known as ectodysplasin A receptor-associated adapter protein (EDARADD). This protein plays a crucial role in the development of ectodermal tissues in the human body. Mutations in the SHFM3P1 gene have been associated with a rare genetic disorder called ectrodactyly, also known as split-hand/split-foot malformation.

Function

The SHFM3P1 gene provides instructions for producing the EDARADD protein, which is involved in signaling pathways that regulate the development of ectodermal tissues such as skin, hair, teeth, and sweat glands. The protein interacts with the ectodysplasin A receptor (EDAR) and plays a key role in the formation of these tissues during embryonic development.

Clinical Significance

Mutations in the SHFM3P1 gene can disrupt the normal function of the EDARADD protein, leading to abnormalities in ectodermal tissue development. Individuals with mutations in this gene may exhibit symptoms of ectrodactyly, which is characterized by missing digits or fusion of fingers and toes. Other features of ectrodactyly can include abnormalities in the skin, hair, and teeth.

Research

Research on SHFM3P1 and its role in ectodermal development is ongoing. Scientists are investigating the specific mechanisms by which mutations in this gene contribute to the development of ectrodactyly and other related conditions. Understanding the function of SHFM3P1 may provide insights into potential therapeutic strategies for individuals affected by ectodermal disorders.