METTL5

Description

The METTL5 (methyltransferase 5, N6-adenosine) is a protein-coding gene located on chromosome 2.

METTL5, in conjunction with TRMT112, catalyzes the methylation of adenine at position 1832 within the 18S rRNA molecule. This methylation occurs at the 6th position of adenine and is crucial for the decoding center of the 18S rRNA. This methylation is essential for proper translation and for maintaining the pluripotency and differentiation capabilities of embryonic stem cells (ESCs).

METTL5 is also known as HSPC133, MRT72.

Associated Diseases

• Intellectual developmental disorder, autosomal recessive 72
• Autosomal recessive primary microcephaly