Gene: ECE2

Alternate names for this Gene: EEF1AKMT4

Gene Summary:

Gene is located in Chromosome: 3

Location in Chromosome : 3q27.1

Description of this Gene: endothelin converting enzyme 2

Type of Gene: protein-coding

Gene: EEF1AKMT4

Alternate names for this Gene: -

Gene Summary: This gene encodes a member of the lysine-specific methyltransferase (KMT) family. The encoded enzyme catalyzes the methylation of lysine-36 of the eukaryotic translation elongation factor 1 alpha. Methylation by this enzyme may affect endoplasmic reticulum-related processes.

Gene is located in Chromosome: 3

Location in Chromosome : 3q27.1

Description of this Gene: EEF1A lysine methyltransferase 4

Type of Gene: protein-coding

Gene: EEF1AKMT4-ECE2

Alternate names for this Gene: ECE-2|ECE2

Gene Summary: This gene represents naturally occurring readthrough transcription between adjacent genes eukaryotic translation elongation factor 1 alpha lysine methyltransferase 4 (GeneID: 110599564) and endothelin converting enzyme 2 (GeneID:9718). The readthrough transcript representing this gene encodes a fusion protein that shares sequence identity with each individual gene product.

Gene is located in Chromosome: 3

Location in Chromosome : 3q27.1

Description of this Gene: EEF1AKMT4-ECE2 readthrough

Type of Gene: protein-coding

Gene: ALG3

Alternate names for this Gene: CDG1D|CDGS4|CDGS6|D16Ertd36e|NOT56L|Not56|not

Gene Summary: This gene encodes a member of the ALG3 family. The encoded protein catalyses the addition of the first dol-P-Man derived mannose in an alpha 1,3 linkage to Man5GlcNAc2-PP-Dol. Defects in this gene have been associated with congenital disorder of glycosylation type Id (CDG-Id) characterized by abnormal N-glycosylation. Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 3

Location in Chromosome : 3q27.1

Description of this Gene: ALG3 alpha-1,3- mannosyltransferase

Type of Gene: protein-coding

rs11546878 in ECE2;EEF1AKMT4;EEF1AKMT4-ECE2;ALG3 gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 29273807 2018 Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.