Gene: PNMT

Alternate names for this Gene: PENT|PNMTase

Gene Summary: The product of this gene catalyzes the last step of the catecholamine biosynthesis pathway, which methylates norepinephrine to form epinephrine (adrenaline). The enzyme also has beta-carboline 2N-methyltransferase activity. This gene is thought to play a key step in regulating epinephrine production. Alternatively spliced transcript variants have been found for this gene.

Gene is located in Chromosome: 17

Location in Chromosome : 17q12

Description of this Gene: phenylethanolamine N-methyltransferase

Type of Gene: protein-coding

Gene: TCAP

Alternate names for this Gene: CMD1N|CMH25|LGMD2G|LGMDR7|T-cap|TELE|telethonin

Gene Summary: Sarcomere assembly is regulated by the muscle protein titin. Titin is a giant elastic protein with kinase activity that extends half the length of a sarcomere. It serves as a scaffold to which myofibrils and other muscle related proteins are attached. This gene encodes a protein found in striated and cardiac muscle that binds to the titin Z1-Z2 domains and is a substrate of titin kinase, interactions thought to be critical to sarcomere assembly. Mutations in this gene are associated with limb-girdle muscular dystrophy type 2G.

Gene is located in Chromosome: 17

Location in Chromosome : 17q12

Description of this Gene: titin-cap

Type of Gene: protein-coding