LMX1b: Proteins and Enzymes

LMX1B is a gene that codes for a protein with three isoforms, measuring 402, 395, and 406 amino acids in length with weights of approximately 45, 44, and 45 kDa respectively. LMX1B is necessary for the specification of dorsal limb fate. Current studies are being done on several diseases and disorders related to this gene including Meier-Gorlin syndrome, steroid-resistant nephrotic syndrome, sex reversal, attention deficit hyperactivity disorder, cleft lip/palate, familial Mediterranean fever, genitopatellar syndrome, major depressive disorder, nail dysplasia, short stature, heart block, and neuronitis. LMX1B has also been shown to have interactions with LDB1, TCF3, SSBP3, ALX4, and LDB2 in pathways such as the SIDS susceptibility pathway.