Gene: GDF1

Alternate names for this Gene: CERS1|CHTD6|DORV|DTGA3|LAG1|LASS1|RAI|UOG1

Gene Summary: This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. Studies in rodents suggest that this protein is involved in the establishment of left-right asymmetry in early embryogenesis and in neural development in later embryogenesis. The encoded protein is translated from a bicistronic mRNA that also encodes ceramide synthase 1. Mutations in this gene are associated with several congenital cardiovascular malformations.

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.11

Description of this Gene: growth differentiation factor 1

Type of Gene: protein-coding

Gene: CERS1

Alternate names for this Gene: EPM8|GDF-1|GDF1|LAG1|LASS1|UOG1

Gene Summary: This gene encodes a ceramide synthase enzyme, which catalyzes the synthesis of ceramide, the hydrophobic moiety of sphingolipids. The encoded enzyme synthesizes 18-carbon (C18) ceramide in brain neurons. Elevated expression of this gene may be associated with increased longevity, while decreased expression of this gene may be associated with myoclonus epilepsy with dementia in human patients. This protein is transcribed from a monocistronic mRNA as well as a bicistronic mRNA, which also encodes growth differentiation factor 1.

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.11

Description of this Gene: ceramide synthase 1

Type of Gene: protein-coding