Entrez 29914 | Ensembl ENSG00000120942 | |
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Aliases UBIAD1, SCCD, TERE1, UbiA prenyltransferase domain containing 1 External IDs MGI: 1918957 HomoloGene: 8336 GeneCards: UBIAD1 | ||
UbiA prenyltransferase domain-containing protein 1 (UBIAD1) also known as transitional epithelial response protein 1 (TERE1) is a protein that in humans is encoded by the UBIAD1 gene.
Recent evidence suggests that ubiad1 has enzymatic activity in the vitamin K pathway, a role in blood vessel development, and may be involved in oxidative stress pathways.
Clinical significance
Mutations of the UBIAD1 gene cause Schnyder crystalline corneal dystrophy.
References
UBIAD1 Wikipedia(Text) CC BY-SA