Disease Info Card

Holocarboxylase Synthetase Deficiency

Information about Holocarboxylase Synthetase Deficiency: characteristics, related genes and pathways, plus antibodies you can use for research. This page is being enriched constantly, if you see some information you would like this page to include please send your suggestions to us.

Overview of Holocarboxylase Synthetase Deficiency

Most recent studies have shown that Holocarboxylase Synthetase Deficiency shares some biological mechanisms with acidemia, acidosis, acidosis-lactic, biotin-deficiency, biotinidase-deficiency, dermatitis, exanthema, hyperammonemia, inborn-errors-of-metabolism, macular-corneal-dystrophy-type-i, metabolic-acidosis, metabolic-diseases, methylmalonic-acidemia, multiple-carboxylase-deficiency, propionic-acidemia, pyruvate-carboxylase-deficiency-disease, vomiting.

Among the many pathways, these few ones have gauged particular interests from scientists studying Holocarboxylase Synthetase Deficiency, and have been seen in publications frequently: Biotin Transport, Cellular Homeostasis, Excretion, Fatty Acid Oxidation, Gluconeogenesis, Histone Biotinylation, Methylation, Pathogenesis, Proteolysis, Regulation Of Gene Expression, Response To Biotin, Transport

Quite a number of genes have been found to play important roles in Holocarboxylase Synthetase Deficiency, such as ACAA2, BTD, CD80, CSF2, CYCS, CYP17A1, DNMT1, ECHDC1, HLCS, KIT, LAMC2, MECP2, MLYCD, MTSS1, PC, QPCT, SLC22A5, SLC25A13, SP8. See what Boster has to offer for the research of these genes by clicking the gene name links below and view a more detailed info card/product listing for that gene.

In a later update, we will include information such as current drugs and therapy solutions as well as on-going and past clinical trials for this disease. Plesae stay updated.

Holocarboxylase Synthetase Deficiency Related Genes

click to see detail information for each gene

ACAA2 BTD CD80
CSF2 CYCS CYP17A1
DNMT1 ECHDC1 HLCS
KIT LAMC2 MECP2
MLYCD MTSS1 PC
QPCT SLC22A5 SLC25A13
SP8

Pathways Related to Holocarboxylase Synthetase Deficiency

This information is being compiled and will come in a future update

Biotin Transport Cellular Homeostasis Excretion
Fatty Acid Oxidation Gluconeogenesis Histone Biotinylation
Methylation Pathogenesis Proteolysis
Regulation Of Gene Expression Response To Biotin Transport