AASA
AASA
AASA, also known as Alanyl-tRNA synthetase, is an enzyme that plays a crucial role in protein synthesis within the human body. It is responsible for attaching the amino acid alanine to the appropriate transfer RNA (tRNA) molecule, a process known as aminoacylation.
Function
The primary function of AASA is to facilitate the protein synthesis process. It does this by catalyzing the attachment of alanine to its corresponding tRNA molecule. This process, known as aminoacylation, is essential for the translation of genetic information into proteins.
Clinical Significance
Mutations in the AASA gene can lead to a rare genetic disorder known as Alanyl-tRNA synthetase deficiency. This condition is characterized by a variety of symptoms, including developmental delay, seizures, and hypotonia. It is typically diagnosed through genetic testing.
See Also
References
External links
- Medical encyclopedia article on AASA
- Wikipedia's article - AASA
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