CDK5RAP1


Description

The CDK5RAP1 (CDK5 regulatory subunit associated protein 1) is a protein-coding gene located on chromosome 20.

CDK5RAP1 is a protein involved in neuronal differentiation. It binds to p25NCK5A, a subunit of neuronal CDC2-like kinase (CDK5). This kinase plays a role in regulating neuronal differentiation. Multiple transcript variants exist for the CDK5RAP1 gene, but the full-length natures of only two have been determined.

CDK5RAP1 is a methylthiotransferase that modifies specific mitochondrial tRNAs by converting N6-(dimethylallyl)adenosine (i(6)A) to 2-methylthio-N6-(dimethylallyl)adenosine (ms(2)i(6)A) at position 37, near the anticodon. This modification is crucial for efficient and accurate protein translation by ribosomes. CDK5RAP1 also plays a role in regulating CDK5 activation, specifically inhibiting its activation by CDK5R1. Efficient mitochondrial protein synthesis and respiratory chain function are dependent on CDK5RAP1, and its dysfunction can lead to mitochondrial disease.

CDK5RAP1 is also known as C20orf34, C42, CGI-05, HSPC167.

Associated Diseases



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