Table 2.
Functional role of major genes associated with non-alcoholic fatty liver disease identified by genome/exome wide association studies
| Gene | Protein | Cellular location1 | Function1 | Chromosome location2 | No. of exons and size2 | Pathway/biologic function1 | Tissues expressed1 |
| PNPLA3 | Patatin-like phospholipase domain-containing protein 3 | Lipid droplets | Triacyl glycerol lipase and acylglycerol O-cyltransferase activities | Chromosome 22: 43,923,739-43,964,488 (forward strand) | 9 (2805 bp) | Triacyl glycerol degradation and in glycerol-lipid metabolism | Liver, gall bladder, kidney, exocrine pancreas, seminal vesicles, intestine and salivary glands |
| TM6SF2 | Transmembrane 6 superfamily member 2 | ER and the ER-golgi intermediate compartment | Regulation of fat in liver influencing triglyceride secretion and lipid droplet content | Chromosome 19: 19,264,364-19,273,391 (reverse strand) | 10 (1505 bp) | Promotes very low density lipoprotein export | Liver and intestine |
| SAMM50 | Sorting and assembly machinery component 50 homolog | Outer mitochondrial membrane | Assembly of beta-barrel proteins | Chromosome 22: 43,955,421-44,010,531 (forward strand) | 15 (1717) | Transport to the Golgi and subsequent modification and mitochondrial protein import | Liver, muscle, skeletal, lung adipocyte, colon and other tissues |
| PARVB | Parvin, beta | Cytoplasm | Involved in the reorganization of the actin cytoskeleton and formation of lamellipodia | Chromosome 22: 44,024,277-44,172,949 (forward strand) | 13 (5429 bp) | ERK signaling and focal adhesion | Liver, muscle, skeletal, lung adipocyte, colon and other tissues |
| NCAN | Neurocan | Extracellular, Golgi lumen | Modulates neuronal adhesion and neurite growth during development | Chromosome 19: 19,211,973-19,252,233 (forward strand) | 15 (6387 bp) | Developmental | Liver, muscle, skeletal, lung adipocyte, colon and other tissues |
| PPP1R3B | Protein phosphatase 1, regulatory subunit 3B | Glycogen granule | Acts as glycogen targeting subunit for phosphatase PP1 | Chromosome 8: 9,136,255-9,151,574 (reverse strand) | 2 (5548 bp) | Regulating glycogen synthesis | Liver, skeletal muscle |
| GCKR | GCKR | Cytoplasm, nucleus | Inhibits glucokinase by forming an inactive complex with this enzyme. The affinity of GCKR for GK is modulated by fructose metabolites | Chromosome 2: 27,496,842-27,523,684 (forward strand) | 19 (2186 bp) | Carbohydrate metabolism | Liver, pancreas, colon and other tissues |
| LYPLAL1 | Lysophospholipase-like 1 | Cytoplasm | Depalmitoylating activity | Chromosome 1: 219,173,844-219,212,865 (forward strand) | 5 (1898 bp) | Negative regulation of golgi to plasma membrane protein transport | Liver, muscle, skeletal, lung adipocyte, colon and other tissues |
1
Data extracted from http://www.genecards.org/;
2
Data extracted from ENSEBL http://asia.ensembl.org/index.html; ER: Endoplasmic reticulum; PP1: Protein phosphatase 1; GCKR: Glucokinase (Hexokinase 4) regulator; GK: Glucokinase; ERK: Extracellular signal–regulated kinase.