CPT1A

carnitine palmitoyltransferase 1A

Tier: Cilia-Associated Genes

Ensembl:: ENSG00000110090
OMIM:: 600528
Synonyms:: CPT1, CPT1-L, L-CPT1

Subcellular localization

Mitochondria

Function

Zebrafish cpt1a morphants exhibit clinical phenotypes of stage 3/4 MTP retinopathy. Cpt1a deficiency exhibits loss of connecting cilia and affects photoreceptor cell development. Cpt1 deficiency promotes lipid accumulation and ferroptosis in the retina, which is attributed to photoreceptor degeneration and vision loss(37141637).

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