Gene: IL11RA

Alternate names for this Gene: CRSDA

Gene Summary: Interleukin 11 is a stromal cell-derived cytokine that belongs to a family of pleiotropic and redundant cytokines that use the gp130 transducing subunit in their high affinity receptors. This gene encodes the IL-11 receptor, which is a member of the hematopoietic cytokine receptor family. This particular receptor is very similar to ciliary neurotrophic factor, since both contain an extracellular region with a 2-domain structure composed of an immunoglobulin-like domain and a cytokine receptor-like domain. Multiple alternatively spliced transcript variants have been found for this gene.

Gene is located in Chromosome: 9

Location in Chromosome : 9p13.3

Description of this Gene: interleukin 11 receptor subunit alpha

Type of Gene: protein-coding

Gene: GALT

Alternate names for this Gene: -

Gene Summary: Galactose-1-phosphate uridyl transferase (GALT) catalyzes the second step of the Leloir pathway of galactose metabolism, namely the conversion of UDP-glucose + galactose-1-phosphate to glucose-1-phosphate + UDP-galactose. The absence of this enzyme results in classic galactosemia in humans and can be fatal in the newborn period if lactose is not removed from the diet. The pathophysiology of galactosemia has not been clearly defined. Two transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 9

Location in Chromosome : 9p13.3

Description of this Gene: galactose-1-phosphate uridylyltransferase

Type of Gene: protein-coding