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UBIAD1

UBIAD1

Protein-coding gene in the species Homo sapiens

protein 1 (UBIAD1) also known as transitional epithelial response protein 1 (TERE1) is a protein that in humans is encoded by the UBIAD1 gene. The enzyme

UBIAD1

Schnyder crystalline corneal dystrophy

Medical condition

rare form of corneal dystrophy. It is caused by heterozygous mutations in UBIAD1 gene. Cells in the cornea accumulate cholesterol and phosopholipid deposits

Schnyder crystalline corneal dystrophy

Schnyder_crystalline_corneal_dystrophy

Menadione

Pharmaceutical compound

(specifically, MK-4) by the prenyltransferase action of vertebrate protein UBIAD1. This reaction requires the hydroquinone (reduced) form of K3, menadiol

Menadione

Corneal dystrophy

Clouding of the transparent cornea of the eye

mutations in the CHST6, KRT3, KRT12, PIP5K3, SLC4A11, TACSTD2, TGFBI, and UBIAD1 genes. Mutations in TGFBI which encodes transforming growth factor beta

Corneal dystrophy

Corneal_dystrophy

Menatetrenone

Form of vitamin K

Attachment of GGPP tail to form menaquinol-4, the reduced form of MK-4 (UBIAD1) The second and third steps are known to happen in target tissue. The first

Menatetrenone

List of human protein-coding genes 8

Q14139 17797 UBE4B HGNC:12500; O95155 17798 UBFD1 HGNC:30565; O14562 17799 UBIAD1 HGNC:30791; Q9Y5Z9 17800 UBL3 HGNC:12504; O95164 17801 UBL4A HGNC:12505;

List of human protein-coding genes 8

List_of_human_protein-coding_genes_8

List of OMIM disorder codes

stromal; 610048; DCN Corneal dystrophy, crystalline, of Schnyder; 121800; UBIAD1 Corneal dystrophy, epithelial basement membrane; 121820; TGFBI Corneal dystrophy

List of OMIM disorder codes

List_of_OMIM_disorder_codes