Gene: CYP4V2

Alternate names for this Gene: BCD|CYP4AH1

Gene Summary: This gene encodes a member of the cytochrome P450 hemethiolate protein superfamily which are involved in oxidizing various substrates in the metabolic pathway. It is implicated in the metabolism of fatty acid precursors into n-3 polyunsaturated fatty acids. Mutations in this gene result in Bietti crystalline corneoretinal dystrophy.

Gene is located in Chromosome: 4

Location in Chromosome : 4q35.1-q35.2

Description of this Gene: cytochrome P450 family 4 subfamily V member 2

Type of Gene: protein-coding

Gene: KLKB1

Alternate names for this Gene: KLK3|PKK|PKKD|PPK

Gene Summary: This gene encodes a glycoprotein that participates in the surface-dependent activation of blood coagulation, fibrinolysis, kinin generation and inflammation. The encoded preproprotein present in plasma as a non-covalent complex with high molecular weight kininogen undergoes proteolytic processing mediated by activated coagulation factor XII to generate a disulfide-linked, heterodimeric serine protease comprised of heavy and light chains. Certain mutations in this gene cause prekallikrein deficiency. Alternative splicing results in multiple transcript variants encoding different isoforms.

Gene is located in Chromosome: 4

Location in Chromosome : 4q35.2

Description of this Gene: kallikrein B1

Type of Gene: protein-coding