ACSM3

acyl-CoA synthetase medium chain family member 3

Summary

Enables medium-chain fatty acid-CoA ligase activity. Predicted to be involved in acyl-CoA metabolic process and fatty acid biosynthetic process. Located in mitochondrion. Implicated in IgA glomerulonephritis. Biomarker of ulcerative colitis. [provided by Alliance of Genome Resources, Jul 2025]

Known Variants45 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1164379316:20,700,016G/Aintron variant
rs1292154116:20,718,842G/Cintron variant
rs19221801616:20,725,701G/Tintron variant
rs18781887616:20,740,720G/Cdownstream gene variant
rs77326135216:20,781,367G/Tlikely benign
rs75615939316:20,781,388G/Alikely benign
rs75535524816:20,781,431G/Alikely benign
rs15067804816:20,781,449T/Clikely benign
rs14508027216:20,781,486G/Cuncertain significance
rs57403575016:20,781,558T/Guncertain significance
rs74699652716:20,787,305C/Tuncertain significance
rs37270436816:20,788,827G/Cuncertain significance
rs78041023316:20,788,891G/Cuncertain significance
rs13874350216:20,792,043A/Cuncertain significance
rs14528260116:20,792,096C/Guncertain significance
rs13787923516:20,792,122C/Tuncertain significance
rs77938069416:20,792,176G/Cuncertain significance
rs75083401316:20,792,296G/Cuncertain significance
rs37013857416:20,792,316C/Guncertain significance
rs129225818016:20,792,339T/Auncertain significance
rs75594254716:20,792,346C/Tuncertain significance
rs14391586916:20,792,347G/Alikely benign
rs119987508316:20,792,370G/Tuncertain significance
rs76877318816:20,792,384C/Tuncertain significance
rs14835401716:20,792,385C/Tuncertain significance
rs254942033816:20,792,397G/Auncertain significance
rs77997360816:20,793,046C/Tuncertain significance
rs208035803916:20,793,078T/Cuncertain significance
rs26760444316:20,793,082G/Auncertain significance
rs19985131916:20,796,395T/Cuncertain significance
rs75925325716:20,797,410G/Cuncertain significance
rs76748336716:20,797,418T/Guncertain significance
rs78043233116:20,797,458C/Tuncertain significance
rs993377416:20,798,212T/C
rs20145364416:20,801,954G/Amissense variantUncertain significance
rs37317885316:20,801,982G/Auncertain significance
rs14672138916:20,802,008G/Alikely benign
rs36887217816:20,803,327A/Cuncertain significance
rs77505365516:20,803,367A/Guncertain significance
rs14709822716:20,803,569G/Tuncertain significance
rs77803206416:20,803,581T/Cuncertain significance
rs37483336716:20,807,710G/Auncertain significance
rs254339740016:20,807,804C/Auncertain significance
rs14140310016:20,808,241A/Guncertain significance
rs15081710716:20,808,275A/Cuncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.