ENO1

enolase 1

Summary

This gene encodes alpha-enolase, one of three enolase isoenzymes found in mammals. Each isoenzyme is a homodimer composed of 2 alpha, 2 gamma, or 2 beta subunits, and functions as a glycolytic enzyme. Alpha-enolase in addition, functions as a structural lens protein (tau-crystallin) in the monomeric form. Alternative splicing of this gene results in a shorter isoform that has been shown to bind to the c-myc promoter and function as a tumor suppressor. Several pseudogenes have been identified, including one on the long arm of chromosome 1. Alpha-enolase has also been identified as an autoantigen in Hashimoto encephalopathy. [provided by RefSeq, Jan 2011]

Known Variants21 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs138375821	1:8,921,419	T/C	—	benign
rs906191457	1:8,921,444	T/C	—	uncertain significance
rs369746357	1:8,921,454	C/G	—	uncertain significance
rs2522190835	1:8,921,472	C/T	—	uncertain significance
rs146867004	1:8,924,018	G/T	—	uncertain significance
rs2522212373	1:8,924,121	T/C	—	uncertain significance
rs533860041	1:8,924,143	T/C	—	uncertain significance
rs765364110	1:8,925,349	T/G	—	uncertain significance
rs2522220504	1:8,925,403	C/A	—	uncertain significance
rs2230874	1:8,925,474	G/A	—	benign
rs1356620931	1:8,925,551	G/A	—	likely benign
rs192744064	1:8,926,071	C/T	regulatory region variant	—
rs772567946	1:8,926,356	T/C	—	uncertain significance
rs748376947	1:8,926,458	G/A	—	uncertain significance
rs11544513	1:8,926,474	G/T	missense variant	—
rs754352845	1:8,927,304	A/C	—	uncertain significance
rs142310173	1:8,931,956	C/T	—	uncertain significance
rs1306980664	1:8,931,969	C/T	—	likely benign
rs138834005	1:8,932,000	T/C	—	uncertain significance
rs1297999877	1:8,932,030	G/C	—	uncertain significance
rs940879815	1:8,932,033	G/C	—	uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.