Ceramide kinase-like protein (CERKL)

Ceramide kinase-like protein (CERKL) is a gene primarily expressed in the retina whose mutations are linked to autosomal recessive retinal degenerations such as retinitis pigmentosa and cone-rod dystrophy[2][1]. Despite structural similarity to ceramide kinase, CERKL does not phosphorylate ceramide or other tested lipid substrates[2][3]. Instead, CERKL exerts crucial protective functions in retinal cells by binding mRNA and participating in mRNA metabolism, interacting with protein complexes related to translation, and associating with stress granules, P-bodies, and microtubules[1]. It also helps regulate autophagy by stabilizing SIRT1 and maintains mitochondrial/oxidative stress resistance through interaction with mitochondrial thioredoxin 2[2][4]. Disease-associated mutations in CERKL impair these protective roles, leading to progressive retinal degeneration and photoreceptor cell death[2][1][4]. No approved therapeutic drugs directly target CERKL, and its role is not as a classical enzyme or receptor, but rather as a multifunctional regulator critical for retinal health.

Other names

CERK like autophagy regulatorCERKLRP26ceramide kinase-like proteinceramide kinase like