Gene Affected Protein Affected Locus Gene Function Primary Defect WFS1 Wolframin 4p16.1 10 transmembrane domain protein, function unknown Diabetes insipidus and mellitus with optic atrophy and deafness (DIDMOAD); Wolfram Syndrome ZCD2 ERIS 4q22-q24 Zinc finger protein ZCD2 Wolfram Syndrome 2 INS Insulin 11p15.5 Hormone Mutation in insulin, proinsulin, and proinsulin processing PTF1A Pancreas transcription factor 1 10p12 Alpha subunit of PTF1 Permanent neonatal diabetes with cerebellar agenesis EIF2AK3 PERK 2p12 Pancreatic eIF2-alpha kinase Wolcott-Rallison Syndrome Mitochondrial genome MIDD Mutation at 3243 mtDNA tRNA for leucine Maternally inherited diabetes and deafness; other mitochondrial mutation also observed Mitochondrial genome   Mutation at 14709 mtDNA tRNA for glutamic acid Mitochondrial myopathy with diabetes KCNJ11 Kir6.2 11p15.1 Potassium channel Permanent and transient neonatal diabetes ABCC8 Sur1 11p15.1 Sulfonylurea receptor Permanent and transient neonatal diabetes PLAGL1 (ZAC)/HYMA1 Pleomorhpic adenoma gene 1; hydatidiform mole transcript 11p15.1 Plagl1 - Nuclear zinc finger protein Imprinted region, exact gene unclear; transient neonatal diabetes type 1 INSR Insulin receptor 19p13 Receptor tyrosine kinase Insulin-resistant diabetes with various phenotypes: leprechaunism, Rabson-Mendenhall or type A syndrome AKT2 PKB-beta 19q1 Serine-threonine kinase Severe insulin resistance LMNA Lamin A/C 1q21 Inner nuclear membrane protein Face-sparing partial lipodystrophy with peripheral fat loss; mutations also associated with cardiomyopathy; muscular dystrophy; and Hutchinson-Gilford Progeria LMNB2 Lamin B2 19p13 Inner nuclear membrane protein Partial lipodystrophy sparing legs (Barraquer-Simons Syndrome) PPARG Peroxisome proliferator activated receptor γ 3p25 Nuclear receptor for prostaglands and thiazolidine-diones Rare variants in ligand binding Domain associated with insulin resistance, hypertension, buttock lipodystrophy AGPAT2 1-acyl glycerol-3-phosphophate O-acyltransferase 2 9q34 Enzyme of phospholipid metabolism Congenital generalized lipodystrophy with skeletal lytic lesions (Berardinelli-Seip Syndrome) BSCL2 Seipin 11q13 398 amino acid protein of unknown function Congenital generalized lipodystrophy, learning disabilities

Table 2: Genes associated with monogenic diabetes and secondary to rare genetic disorders