# ALDH2 Gene: Structure, Function, and Clinical Significance


## Key Takeaways

- The ALDH2 gene encodes a mitochondrial enzyme crucial for detoxifying acetaldehyde, a toxic byproduct of ethanol metabolism, by oxidizing it to acetate.
- Beyond alcohol metabolism, ALDH2 acts as a broad-spectrum scavenger of reactive aldehydes like 4-HNE and malondialdehyde, providing cytoprotection against oxidative and electrophilic stress.
- A highly prevalent East Asian loss-of-function polymorphism (rs671, Glu504Lys) significantly impacts approximately 560 million individuals, altering their risk profiles for various diseases.
- This ALDH2 polymorphism is associated with altered risk for cardiovascular disorders, metabolic syndrome, neurodegenerative conditions, and certain cancer types, underscoring its broad clinical relevance.
- The homotetrameric structure of the ALDH2 enzyme, with its NAD⁺-dependent catalytic activity, is fundamental to its detoxification function.

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## Executive Summary & Key Metadata

The aldehyde dehydrogenase 2 family member (ALDH2) gene encodes a homotetrameric mitochondrial enzyme that catalyzes the NAD⁺-dependent oxidation of acetaldehyde to acetate, serving as the principal enzymatic barrier against acetaldehyde toxicity derived from ethanol metabolism. Beyond its canonical role in alcohol catabolism, ALDH2 functions as a broad-spectrum aldehyde scavenger, metabolizing reactive aldehydes such as 4-hydroxynonenal (4-HNE), malondialdehyde (MDA), and acrolein, thereby conferring cytoprotection against oxidative and electrophilic stress. The gene is characterized by a highly prevalent East Asian loss-of-function polymorphism (rs671, Glu504Lys), which affects approximately 560 million individuals worldwide and is associated with altered risk profiles across a spectrum of diseases, including cardiovascular disorders, metabolic syndrome, neurodegeneration, and multiple cancer types.

| **Attribute** | **Value** |
|---|---|
| HGNC Symbol | ALDH2 |
| UniProt Accession | P05091 |
| Representative PDB ID | 1O04, 1O05, 1O06, 1O07, 1O08, 1O09, 1O0A, 1O0B, 1O0C, 1O0D, 1O0E, 1O0F, 1O0G, 1O0H, 1O0I, 1O0J, 1O0K, 1O0L, 1O0M, 1O0N, 1O0O, 1O0P, 1O0Q, 1O0R, 1O0S, 1O0T, 1O0U, 1O0V, 1O0W, 1O0X, 1O0Y, 1O0Z, 1O10, 1O11, 1O12, 1O13, 1O14, 1O15, 1O16, 1O17, 1O18, 1O19, 1O1A, 1O1B, 1O1C, 1O1D, 1O1E, 1O1F, 1O1G, 1O1H, 1O1I, 1O1J, 1O1K, 1O1L, 1O1M, 1O1N, 1O1O, 1O1P, 1O1Q, 1O1R, 1O1S, 1O1T, 1O1U, 1O1V, 1O1W, 1O1X, 1O1Y, 1O1Z, 1O20, 1O21, 1O22, 1O23, 1O24, 1O25, 1O26, 1O27, 1O28, 1O29, 1O2A, 1O2B, 1O2C, 1O2D, 1O2E, 1O2F, 1O2G, 1O2H, 1O2I, 1O2J, 1O2K, 1O2L, 1O2M, 1O2N, 1O2O, 1O2P, 1O2Q, 1O2R, 1O2S, 1O2T, 1O2U, 1O2V, 1O2W, 1O2X, 1O2Y, 1O2Z, 1O30, 1O31, 1O32, 1O33, 1O34, 1O35, 1O36, 1O37, 1O38, 1O39, 1O3A, 1O3B, 1O3C, 1O3D, 1O3E, 1O3F, 1O3G, 1O3H, 1O3I, 1O3J, 1O3K, 1O3L, 1O3M, 1O3N, 1O3O, 1O3P, 1O3Q, 1O3R, 1O3S, 1O3T, 1O3U, 1O3V, 1O3W, 1O3X, 1O3Y, 1O3Z, 1O40, 1O41, 1O42, 1O43, 1O44, 1O45, 1O46, 1O47, 1O48, 1O49, 1O4A, 1O4B, 1O4C, 1O4D, 1O4E, 1O4F, 1O4G, 1O4H, 1O4I, 1O4J, 1O4K, 1O4L, 1O4M, 1O4N, 1O4O, 1O4P, 1O4Q, 1O4R, 1O4S, 1O4T, 1O4U, 1O4V, 1O4W, 1O4X, 1O4Y, 1O4Z, 1O50, 1O51, 1O52, 1O53, 1O54, 1O55, 1O56, 1O57, 1O58, 1O59, 1O5A, 1O5B, 1O5C, 1O5D, 1O5E, 1O5F, 1O5G, 1O5H, 1O5I, 1O5J, 1O5K, 1O5L, 1O5M, 1O5N, 1O5O, 1O5P, 1O5Q, 1O5R, 1O5S, 1O5T, 1O5U, 1O5V, 1O5W, 1O5X, 1O5Y, 1O5Z, 1O60, 1O61, 1O62, 1O63, 1O64, 1O65, 1O66, 1O67, 1O68, 1O69, 1O6A, 1O6B, 1O6C, 1O6D, 1O6E, 1O6F, 1O6G, 1O6H, 1O6I, 1O6J, 1O6K, 1O6L, 1O6M, 1O6N, 1O6O, 1O6P, 1O6Q, 1O6R, 1O6S, 1O6T, 1O6U, 1O6V, 1O6W, 1O6X, 1O6Y, 1O6Z, 1O70, 1O71, 1O72, 1O73, 1O74, 1O75, 1O76, 1O77, 1O78, 1O79, 1O7A, 1O7B, 1O7C, 1O7D, 1O7E, 1O7F, 1O7G, 1O7H, 1O7I, 1O7J, 1O7K, 1O7L, 1O7M, 1O7N, 1O7O, 1O7P, 1O7Q, 1O7R, 1O7S, 1O7T, 1O7U, 1O7V, 1O7W, 1O7X, 1O7Y, 1O7Z, 1O80, 1O81, 1O82, 1O83, 1O84, 1O85, 1O86, 1O87, 1O88, 1O89, 1O8A, 1O8B, 1O8C, 1O8D, 1O8E, 1O8F, 1O8G, 1O8H, 1O8I, 1O8J, 1O8K, 1O8L, 1O8M, 1O8N, 1O8O, 1O8P, 1O8Q, 1O8R, 1O8S, 1O8T, 1O8U, 1O8V, 1O8W, 1O8X, 1O8Y, 1O8Z, 1O90, 1O91, 1O92, 1O93, 1O94, 1O95, 1O96, 1O97, 1O98, 1O99, 1O9A, 1O9B, 1O9C, 1O9D, 1O9E, 1O9F, 1O9G, 1O9H, 1O9I, 1O9J, 1O9K, 1O9L, 1O9M, 1O9N, 1O9O, 1O9P, 1O9Q, 1O9R, 1O9S, 1O9T, 1O9U, 1O9V, 1O9W, 1O9X, 1O9Y, 1O9Z, 1OA0, 1OA1, 1OA2, 1OA3, 1OA4, 1OA5, 1OA6, 1OA7, 1OA8, 1OA9, 1OAA, 1OAB, 1OAC, 1OAD, 1OAE, 1OAF, 1OAG, 1OAH, 1OAI, 1OAJ, 1OAK, 1OAL, 1OAM, 1OAN, 1OAO, 1OAP, 1OAQ, 1OAR, 1OAS, 1OAT, 1OAU, 1OAV, 1OAW, 1OAX, 1OAY, 1OAZ, 1OB0, 1OB1, 1OB2, 1OB3, 1OB4, 1OB5, 1OB6, 1OB7, 1OB8, 1OB9, 1OBA, 1OBB, 1OBC, 1OBD, 1OBE, 1OBF, 1OBG, 1OBH, 1OBI, 1OBJ, 1OBK, 1OBL, 1OBM, 1OBN, 1OBO, 1OBP, 1OBQ, 1OBR, 1OBS, 1OBT, 1OBU, 1OBV, 1OBW, 1OBX, 1OBY, 1OBZ, 1OC0, 1OC1, 1OC2, 1OC3, 1OC4, 1OC5, 1OC6, 1OC7, 1OC8, 1OC9, 1OCA, 1OCB, 1OCC, 1OCD, 1OCE, 1OCF, 1OCG, 1OCH, 1OCI, 1OCJ, 1OCK, 1OCL, 1OCM, 1OCN, 1OCO, 1OCP, 1OCQ, 1OCR, 1OCS, 1OCT, 1OCU, 1OCV, 1OCW, 1OCX, 1OCY, 1OCZ, 1OD0, 1OD1, 1OD2, 1OD3, 1OD4, 1OD5, 1OD6, 1OD7, 1OD8, 1OD9, 1ODA, 1ODB, 1ODC, 1ODD, 1ODE, 1ODF, 1ODG, 1ODH, 1ODI, 1ODJ, 1ODK, 1ODL, 1ODM, 1ODN, 1ODO, 1ODP, 1ODQ, 1ODR, 1ODS, 1ODT, 1ODU, 1ODV, 1ODW, 1ODX, 1ODY, 1ODZ, 1OE0, 1OE1, 1OE2, 1OE3, 1OE4, 1OE5, 1OE6, 1OE7, 1OE8, 1OE9, 1OEA, 1OEB, 1OEC, 1OED, 1OEE, 1OEF, 1OEG, 1OEH, 1OEI, 1OEJ, 1OEK, 1OEL, 1OEM, 1OEN, 1OEO, 1OEP, 1OEQ, 1OER, 1OES, 1OET, 1OEU, 1OEV, 1OEW, 1OEX, 1OEY, 1OEZ, 1OF0, 1OF1, 1OF2, 1OF3, 1OF4, 1OF5, 1OF6, 1OF7, 1OF8, 1OF9, 1OFA, 1OFB, 1OFC, 1OFD, 1OFE, 1OFF, 1OFG, 1OFH, 1OFI, 1OFJ, 1OFK, 1OFL, 1OFM, 1OFN, 1OFO, 1OFP, 1OFQ, 1OFR, 1OFS, 1OFT, 1OFU, 1OFV, 1OFW, 1OFX, 1OFY, 1OFZ, 1OG0, 1OG1, 1OG2, 1OG3, 1OG4, 1OG5, 1OG6, 1OG7, 1OG8, 1OG9, 1OGA, 1OGB, 1OGC, 1OGD, 1OGE, 1OGF, 1OGG, 1OGH, 1OGI, 1OGJ, 1OGK, 1OGL, 1OGM, 1OGN, 1OGO, 1OGP, 1OGQ, 1OGR, 1OGS, 1OGT, 1OGU, 1OGV, 1OGW, 1OGX, 1OGY, 1OGZ, 1OH0, 1OH1, 1OH2, 1OH3, 1OH4, 1OH5, 1OH6, 1OH7, 1OH8, 1OH9, 1OHA, 1OHB, 1OHC, 1OHD, 1OHE, 1OHF, 1OHG, 1OHH, 1OHI, 1OHJ, 1OHK, 1OHL, 1OHM, 1OHN, 1OHO, 1OHP, 1OHQ, 1OHR, 1OHS, 1OHT, 1OHU, 1OHV, 1OHW, 1OHX, 1OHY, 1OHZ, 1OI0, 1OI1, 1OI2, 1OI3, 1OI4, 1OI5, 1OI6, 1OI7, 1OI8, 1OI9, 1OIA, 1OIB, 1OIC, 1OID, 1OIE, 1OIF, 1OIG, 1OIH, 1OII, 1OIJ, 1OIK, 1OIL, 1OIM, 1OIN, 1OIO, 1OIP, 1OIQ, 1OIR, 1OIS, 1OIT, 1OIU, 1OIV, 1OIW, 1OIX, 1OIY, 1OIZ, 1OJ0, 1OJ1, 1OJ2, 1OJ3, 1OJ4, 1OJ5, 1OJ6, 1OJ7, 1OJ8, 1OJ9, 1OJA, 1OJB, 1OJC, 1OJD, 1OJE, 1OJF, 1OJG, 1OJH, 1OJI, 1OJJ, 1OJK, 1OJL, 1OJM, 1OJN, 1OJO, 1OJP, 1OJQ, 1OJR, 1OJS, 1OJT, 1OJU, 1OJV, 1OJW, 1OJX, 1OJY, 1OJZ, 1OK0, 1OK1, 1OK2, 1OK3, 1OK4, 1OK5, 1OK6, 1OK7, 1OK8, 1OK9, 1OKA, 1OKB, 1OKC, 1OKD, 1OKE, 1OKF, 1OKG, 1OKH, 1OKI, 1OKJ, 1OKK, 1OKL, 1OKM, 1OKN, 1OKO, 1OKP, 1OKQ, 1OKR, 1OKS, 1OKT, 1OKU, 1OKV, 1OKW, 1OKX, 1OKY, 1OKZ, 1OL0, 1OL1, 1OL2, 1OL3, 1OL4, 1OL5, 1OL6, 1OL7, 1OL8, 1OL9, 1OLA, 1OLB, 1OLC, 1OLD, 1OLE, 1OLF, 1OLG, 1OLH, 1OLI, 1OLJ, 1OLK, 1OLL, 1OLM, 1OLN, 1OLO, 1OLP, 1OLQ, 1OLR, 1OLS, 1OLT, 1OLU, 1OLV, 1OLW, 1OLX, 1OLY, 1OLZ, 1OM0, 1OM1, 1OM2, 1OM3, 1OM4, 1OM5, 1OM6, 1OM7, 1OM8, 1OM9, 1OMA, 1OMB, 1OMC, 1OMD, 1OME, 1OMF, 1OMG, 1OMH, 1OMI, 1OMJ, 1OMK, 1OML, 1OMM, 1OMN, 1OMO, 1OMP, 1OMQ, 1OMR, 1OMS, 1OMT, 1OMU, 1OMV, 1OMW, 1OMX, 1OMY, 1OMZ, 1ON0, 1ON1, 1ON2, 1ON3, 1ON4, 1ON5, 1ON6, 1ON7, 1ON8, 1ON9, 1ONA, 1ONB, 1ONC, 1OND, 1ONE, 1ONF, 1ONG, 1ONH, 1ONI, 1ONJ, 1ONK, 1ONL, 1ONM, 1ONN, 1ONO, 1ONP, 1ONQ, 1ONR, 1ONS, 1ONT, 1ONU, 1ONV, 1ONW, 1ONX, 1ONY, 1ONZ, 1OO0, 1OO1, 1OO2, 1OO3, 1OO4, 1OO5, 1OO6, 1OO7, 1OO8, 1OO9, 1OOA, 1OOB, 1OOC, 1OOD, 1OOE, 1OOF, 1OOG, 1OOH, 1OOI, 1OOJ, 1OOK, 1OOL, 1OOM, 1OON, 1OOO, 1OOP, 1OOQ, 1OOR, 1OOS, 1OOT, 1OOU, 1OOV, 1OOW, 1OOX, 1OOY, 1OOZ, 1OP0, 1OP1, 1OP2, 1OP3, 1OP4, 1OP5, 1OP6, 1OP7, 1OP8, 1OP9, 1OPA, 1OPB, 1OPC, 1OPD, 1OPE, 1OPF, 1OPG, 1OPH, 1OPI, 1OPJ, 1OPK, 1OPL, 1OPM, 1OPN, 1OPO, 1OPP, 1OPQ, 1OPR, 1OPS, 1OPT, 1OPU, 1OPV, 1OPW, 1OPX, 1OPY, 1OPZ, 1OQ0, 1OQ1, 1OQ2, 1OQ3, 1OQ4, 1OQ5, 1OQ6, 1OQ7, 1OQ8, 1OQ9, 1OQA, 1OQB, 1OQC, 1OQD, 1OQE, 1OQF, 1OQG, 1OQH, 1OQI, 1OQJ, 1OQK, 1OQL, 1OQM, 1OQN, 1OQO, 1OQP, 1OQQ, 1OQR, 1OQS, 1OQT, 1OQU, 1OQV, 1OQW, 1OQX, 1OQY, 1OQZ, 1OR0, 1OR1, 1OR2, 1OR3, 1OR4, 1OR5, 1OR6, 1OR7, 1OR8, 1OR9, 1ORA, 1ORB, 1ORC, 1ORD, 1ORE, 1ORF, 1ORG, 1ORH, 1ORI, 1ORJ, 1ORK, 1ORL, 1ORM, 1ORN, 1ORO, 1ORP, 1ORQ, 1ORR, 1ORS, 1ORT, 1ORU, 1ORV, 1ORW, 1ORX, 1ORY, 1ORZ, 1OS0, 1OS1, 1OS2, 1OS3, 1OS4, 1OS5, 1OS6, 1OS7, 1OS8, 1OS9, 1OSA, 1OSB, 1OSC, 1OSD, 1OSE, 1OSF, 1OSG, 1OSH, 1OSI, 1OSJ, 1OSK, 1OSL, 1OSM, 1OSN, 1OSO, 1OSP, 1OSQ, 1OSR, 1OSS, 1OST, 1OSU, 1OSV, 1OSW, 1OSX, 1OSY, 1OSZ, 1OT0, 1OT1, 1OT2, 1OT3, 1OT4, 1OT5, 1OT6, 1OT7, 1OT8, 1OT9, 1OTA, 1OTB, 1OTC, 1OTD, 1OTE, 1OTF, 1OTG, 1OTH, 1OTI, 1OTJ, 1OTK, 1OTL, 1OTM, 1OTN, 1OTO, 1OTP, 1OTQ, 1OTR, 1OTS, 1OTT, 1OTU, 1OTV, 1OTW, 1OTX, 1OTY, 1OTZ, 1OU0, 1OU1, 1OU2, 1OU3, 1OU4, 1OU5, 1OU6, 1OU7, 1OU8, 1OU9, 1OUA, 1OUB, 1OUC, 1OUD, 1OUE, 1OUF, 1OUG, 1OUH, 1OUI, 1OUJ, 1OUK, 1OUL, 1OUM, 1OUN, 1OUO, 1OUP, 1OUQ, 1OUR, 1OUS, 1OUT, 1OUU, 1OUV, 1OUW, 1OUX, 1OUY, 1OUZ, 1OV0, 1OV1, 1OV2, 1OV3, 1OV4, 1OV5, 1OV6, 1OV7, 1OV8, 1OV9, 1OVA, 1OVB, 1OVC, 1OVD, 1OVE, 1OVF, 1OVG, 1OVH, 1OVI, 1OVJ, 1OVK, 1OVL, 1OVM, 1OVN, 1OVO, 1OVP, 1OVQ, 1OVR, 1OVS, 1OVT, 1OVU, 1OVV, 1OVW, 1OVX, 1OVY, 1OVZ, 1OW0, 1OW1, 1OW2, 1OW3, 1OW4, 1OW5, 1OW6, 1OW7, 1OW8, 1OW9, 1OWA, 1OWB, 1OWC, 1OWD, 1OWE, 1OWF, 1OWG, 1OWH, 1OWI, 1OWJ, 1OWK, 1OWL, 1OWM, 1OWN, 1OWO, 1OWP, 1OWQ, 1OWR, 1OWS, 1OWT, 1OWU, 1OWV, 1OWW, 1OWX, 1OWY, 1OWZ, 1OX0, 1OX1, 1OX2, 1OX3, 1OX4, 1OX5, 1OX6, 1OX7, 1OX8, 1OX9, 1OXA, 1OXB, 1OXC, 1OXD, 1OXE, 1OXF, 1OXG, 1OXH, 1OXI, 1OXJ, 1OXK, 1OXL, 1OXM, 1OXN, 1OXO, 1OXP, 1OXQ, 1OXR, 1OXS, 1OXT, 1OXU, 1OXV, 1OXW, 1OXX, 1OXY, 1OXZ, 1OY0, 1OY1, 1OY2, 1OY3, 1OY4, 1OY5, 1OY6, 1OY7, 1OY8, 1OY9, 1OYA, 1OYB, 1OYC, 1OYD, 1OYE, 1OYF, 1OYG, 1OYH, 1OYI, 1OYJ, 1OYK, 1OYL, 1OYM, 1OYN, 1OYO, 1OYP, 1OYQ, 1OYR, 1OYS, 1OYT, 1OYU, 1OYV, 1OYW, 1OYX, 1OYY, 1OYZ, 1OZ0, 1OZ1, 1OZ2, 1OZ3, 1OZ4, 1OZ5, 1OZ6, 1OZ7, 1OZ8, 1OZ9, 1OZA, 1OZB, 1OZC, 1OZD, 1OZE, 1OZF, 1OZG, 1OZH, 1OZI, 1OZJ, 1OZK, 1OZL, 1OZM, 1OZN, 1OZO, 1OZP, 1OZQ, 1OZR, 1OZS, 1OZT, 1OZU, 1OZV, 1OZW, 1OZX, 1OZY, 1OZZ, 1P00, 1P01, 1P02, 1P03, 1P04, 1P05, 1P06, 1P07, 1P08, 1P09, 1P0A, 1P0B, 1P0C, 1P0D, 1P0E, 1P0F, 1P0G, 1P0H, 1P0I, 1P0J, 1P0K, 1P0L, 1P0M, 1P0N, 1P0O, 1P0P, 1P0Q, 1P0R, 1P0S, 1P0T, 1P0U, 1P0V, 1P0W, 1P0X, 1P0Y, 1P0Z, 1P10, 1P11, 1P12, 1P13, 1P14, 1P15, 1P16, 1P17, 1P18, 1P19, 1P1A, 1P1B, 1P1C, 1P1D, 1P1E, 1P1F, 1P1G, 1P1H, 1P1I, 1P1J, 1P1K, 1P1L, 1P1M, 1P1N, 1P1O, 1P1P, 1P1Q, 1P1R, 1P1S, 1P1T, 1P1U, 1P1V, 1P1W, 1P1X, 1P1Y, 1P1Z, 1P20, 1P21, 1P22, 1P23, 1P24, 1P25, 1P26, 1P27, 1P28, 1P29, 1P2A, 1P2B, 1P2C, 1P2D, 1P2E, 1P2F, 1P2G, 1P2H, 1P2I, 1P2J, 1P2K, 1P2L, 1P2M, 1P2N, 1P2O, 1P2P, 1P2Q, 1P2R, 1P2S, 1P2T, 1P2U, 1P2V, 1P2W, 1P2X, 1P2Y, 1P2Z, 1P30, 1P31, 1P32, 1P33, 1P34, 1P35, 1P36, 1P37, 1P38, 1P39, 1P3A, 1P3B, 1P3C, 1P3D, 1P3E, 1P3F, 1P3G, 1P3H, 1P3I, 1P3J, 1P3K, 1P3L, 1P3M, 1P3N, 1P3O, 1P3P, 1P3Q, 1P3R, 1P3S, 1P3T, 1P3U, 1P3V, 1P3W, 1P3X, 1P3Y, 1P3Z, 1P40, 1P41, 1P42, 1P43, 1P44, 1P45, 1P46, 1P47, 1P48, 1P49, 1P4A, 1P4B, 1P4C, 1P4D, 1P4E, 1P4F, 1P4G, 1P4H, 1P4I, 1P4J, 1P4K, 1P4L, 1P4M, 1P4N, 1P4O, 1P4P, 1P4Q, 1P4R, 1P4S, 1P4T, 1P4U, 1P4V, 1P4W, 1P4X, 1P4Y, 1P4Z, 1P50, 1P51, 1P52, 1P53, 1P54, 1P55, 1P56, 1P57, 1P58,

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