Centre for Arab Genomic Studies a Division of Sheikh Hamdan Award for Medical Sciences

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Centre for Arab Genomic Studies A Division of Sheikh Hamdan Award for Medical Sciences The atalogue for ransmission enetics in rabs C T G A CTGA Database UbiA Prenyltransferase Domain-Containing Protein 1 Alternative Names Molecular Genetics UBIAD1 Mutation in the UBIAD1 gene causes SCD which is UbiA Prenyltransferase Domain Containing inherited in an autosomal dominant pattern. Transitional Epithelial Response Protein UBIAD1 gene is located on the short arm of Transitional Epithelial Response Protein 2 chromosome 1. It consists of 2 exons and spans TERE1 about 12 kb. This gene encodes a protein believed Schnyder Crystalline Corneal Dystrophy to be involved in the metabolism of cholesterol and phospholipid. Record Category Gene locus Epidemiology in the Arab World WHO-ICD Saudi Arabia N.B.:Classification not applicable to gene loci. Al-Ghadeer et al. (2011) described a Saudi girl and her mother with SCD. Sequencing analysis for Incidence per 100,000 Live Births UBIAD1 gene identified a heterozygous (p.L121F) N/A to gene loci mutationthat had been described previously in the literature. Other family members (father of the girl OMIM Number and her brother) were negative for this mutation. 611632 The authors concluded that the type of mutations associated with SCD is missense mutations. Mode of Inheritance References Gene Map Locus Al-Ghadeer H, Mohamed JY, Khan AO. Schnyder 1p36.22 Corneal Dystrophy in a Saudi Arabian Family with Heterozygous UBIAD1 Mutation (p.L121F). Description Middle East Afr J Ophthalmol. 2011; 18(1):61-4. UBIAD1 is a human MK-4 biosynthetic enzyme. It PMID: 21572737 is a human homolog of the E. coli prenyltransferase menA, which is involved in the vitamin K Related CTGA Records biosynthetic pathway. UBIAD1 gene provides the Schnyder Corneal Dystrophy instructions to produce a protein involved in cholesterol and phospholipid metabolism. External Links http://www.genecards.org/cgi- Mutations in this gene are associated with Schnyder bin/carddisp.pl?gene=UBIAD1 crystalline corneal dystrophy (SCD). Most cases https://ghr.nlm.nih.gov/gene/UBIAD1 reported in the literature were from Western and Asian families. More than 21 missense mutations Contributors in this gene have been described. Ameera Balobaid: 19.06.2016 Copyright © Centre for Arab Genomic Studies 1 .

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UBIAD1-Mediated Vitamin K2 Synthesis Is Required for Vascular Endothelial Cell Survival and Development Jeffrey M
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