Gene: LPCAT3

Alternate names for this Gene: C3F|LPCAT|LPLAT 5|LPSAT|MBOAT5|OACT5|nessy

Gene Summary:

Gene is located in Chromosome: 12

Location in Chromosome : 12p13.31

Description of this Gene: lysophosphatidylcholine acyltransferase 3

Type of Gene: protein-coding

Gene: C1S

Alternate names for this Gene: EDSPD2

Gene Summary: This gene encodes a serine protease, which is a major constituent of the human complement subcomponent C1. C1s associates with two other complement components C1r and C1q in order to yield the first component of the serum complement system. Defects in this gene are the cause of selective C1s deficiency.

Gene is located in Chromosome: 12

Location in Chromosome : 12p13.31

Description of this Gene: complement C1s

Type of Gene: protein-coding

Gene: EMG1

Alternate names for this Gene: C2F|Grcc2f|NEP1

Gene Summary: This gene encodes an essential, conserved eukaryotic protein that methylates pseudouridine in 18S rRNA. The related protein in yeast is a component of the small subunit processome and is essential for biogenesis of the ribosomal 40S subunit. A mutation in this gene has been associated with Bowen-Conradi syndrome. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 12

Location in Chromosome : 12p13.31

Description of this Gene: EMG1 N1-specific pseudouridine methyltransferase

Type of Gene: protein-coding

rs12580543 in LPCAT3;C1S;EMG1 gene and Fatty acid measurement PMID 25500335 2015 A genome-wide association study of saturated, mono- and polyunsaturated red blood cell fatty acids in the Framingham Heart Offspring Study.