GeneID: 285



Names

Common Name: PLPBP Type: Gene
Chromosome: 8 (NC_000008.11) Locus: NG_053030.1 (PLPBP)
HUGO Symbol: PLPBP Full Name: pyridoxal phosphate binding protein
Exons: 8 Introns: 7

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

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage.

Publications / Origin

  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
Created on 2019-09-30 14:14:34, Last reviewed on (Show full history)


Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.