Gene: NRL

Alternate names for this Gene: D14S46E|NRL-MAF|RP27

Gene Summary: This gene encodes a basic motif-leucine zipper transcription factor of the Maf subfamily. The encoded protein is conserved among vertebrates and is a critical intrinsic regulator of photoceptor development and function. Mutations in this gene have been associated with retinitis pigmentosa and retinal degenerative diseases.

Gene is located in Chromosome: 14

Location in Chromosome : 14q11.2-q12

Description of this Gene: neural retina leucine zipper

Type of Gene: protein-coding

Gene: PCK2

Alternate names for this Gene: PEPCK|PEPCK-M|PEPCK2

Gene Summary: This gene encodes a mitochondrial enzyme that catalyzes the conversion of oxaloacetate to phosphoenolpyruvate in the presence of guanosine triphosphate (GTP). A cytosolic form of this protein is encoded by a different gene and is the key enzyme of gluconeogenesis in the liver. Alternatively spliced transcript variants have been described.

Gene is located in Chromosome: 14

Location in Chromosome : 14q11.2-q12

Description of this Gene: phosphoenolpyruvate carboxykinase 2, mitochondrial

Type of Gene: protein-coding