GeneID: 285

Description:
This gene encodes a pyridoxal 5'-phosphate (PLP)-binding protein involved in homeostatic regulation of intracellular PLP. PLP is the active form of vitamin B6 and is best recognized as a coenzyme in numerous enzymatic reactions, including transamination, deoxygenation, and aldol reactions. The PROSC gene associated with diastolic dysfunction in patients with sickle cell disease (SCD) in spite of conflicting evidence in a pre-clinical SCD mouse model.

Synonyms: PROSC , EPVB6D

Comments:
N/A

Number of entries/variants: 0

1. Romo AJ, Liu HW, Mechanisms and structures of vitamin B(6)-dependent enzymes involved in deoxy sugar biosynthesis., Biochim. Biophys. Acta, 1814(11), 1534-47, 2011 PubMed
2. Duarte JD, Desai AA, Sysol JR, Abbasi T, Patel AR, Lang RM, Gupta A, Garcia JG, Gordeuk VR, Machado RF, Genome-Wide Analysis Identifies IL-18 and FUCA2 as Novel Genes Associated with Diastolic Function in African Americans with Sickle Cell Disease., PLoS ONE , 11(9), e0163013, 2016 PubMed
3. Darin N, Reid E, Prunetti L, Samuelsson L, Husain RA, Wilson M, El Yacoubi B, Footitt E, Chong WK, Wilson LC, Prunty H, Pope S, Heales S, Lascelles K, Champion M, Wassmer E, Veggiotti P, de Crécy-Lagard V, Mills PB, Clayton PT, Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B-Dependent Epilepsy., Am. J. Hum. Genet., 99(6), 1325-1337, 2016 PubMed