ALAD

aminolevulinate dehydratase

Summary

The ALAD enzyme is composed of 8 identical subunits and catalyzes the condensation of 2 molecules of delta-aminolevulinate to form porphobilinogen (a precursor of heme, cytochromes and other hemoproteins). ALAD catalyzes the second step in the porphyrin and heme biosynthetic pathway; zinc is essential for enzymatic activity. ALAD enzymatic activity is inhibited by lead and a defect in the ALAD structural gene can cause increased sensitivity to lead poisoning and acute hepatic porphyria. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

Known Variants174 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs818706	9:116,148,630	C/T	—	benign
rs886063357	9:116,148,716	T/G	—	uncertain significance
rs903858525	9:116,148,748	A/G	—	uncertain significance
rs1327333635	9:116,148,776	A/G	—	uncertain significance
rs41276803	9:116,148,777	T/C	—	likely benign
rs1588080129	9:116,148,793	T/G	—	uncertain significance
rs886063358	9:116,148,839	C/T	—	uncertain significance
rs11556126	9:116,148,843	A/G	—	benign
rs756771103	9:116,148,905	G/A	—	uncertain significance
rs1827403039	9:116,148,909	T/A	—	uncertain significance
rs886063359	9:116,148,949	C/T	—	uncertain significance
rs745513769	9:116,149,069	A/G	—	uncertain significance
rs1062685	9:116,149,107	C/T	—	likely benign
rs886063360	9:116,149,110	C/T	—	uncertain significance
rs559359572	9:116,149,116	T/C	—	uncertain significance
rs140946306	9:116,149,199	C/T	—	likely benign
rs11789221	9:116,149,258	C/T	—	conflicting classifications of pathogenicity
rs190137021	9:116,149,300	C/G	—	uncertain significance
rs8177823	9:116,149,573	C/T	—	uncertain significance
rs1827424865	9:116,149,660	G/A	—	uncertain significance
rs8177822	9:116,149,709	T/G	—	benign
rs138705750	9:116,149,767	T/C	—	benign
rs149384214	9:116,149,809	G/A	—	likely benign
rs1827430851	9:116,149,820	A/G	—	uncertain significance
rs182766085	9:116,149,937	C/A	—	uncertain significance
rs818707	9:116,149,967	T/C	—	benign
rs1025631016	9:116,150,082	G/A	—	uncertain significance
rs818708	9:116,150,109	G/A	—	benign
rs886063362	9:116,150,142	C/G	—	uncertain significance
rs41276805	9:116,150,158	C/A	—	uncertain significance
rs557867804	9:116,150,180	C/T	—	uncertain significance
rs886063363	9:116,150,199	C/T	—	uncertain significance
rs576008526	9:116,150,217	C/T	—	uncertain significance
rs538745327	9:116,150,263	A/C	—	likely benign
rs1023159630	9:116,150,346	C/T	—	uncertain significance
rs561104906	9:116,150,453	G/A	—	uncertain significance
rs8177820	9:116,150,474	G/C	—	uncertain significance
rs1827462434	9:116,150,568	G/A	—	uncertain significance
rs749260844	9:116,150,581	C/T	—	likely benign
rs78691919	9:116,150,585	C/T	—	uncertain significance
rs771691451	9:116,150,610	C/T	—	likely benign
rs762227805	9:116,150,612	G/A	—	uncertain significance
rs557510313	9:116,150,633	T/C	—	uncertain significance
rs8177819	9:116,150,906	G/A	—	benign
rs1805313	9:116,151,191	A/G	intron variant	benign
rs372316464	9:116,151,237	C/A	—	likely benign
rs4986829	9:116,151,240	C/T	—	likely benign
rs886063364	9:116,151,242	C/T	—	conflicting classifications of pathogenicity
rs36087664	9:116,151,277	A/G	—	uncertain significance
rs1588081960	9:116,151,278	T/C	—	uncertain significance
rs1189758003	9:116,151,285	C/T	—	likely benign
rs370242589	9:116,151,291	G/A	—	uncertain significance
rs200781693	9:116,151,314	C/T	—	uncertain significance
rs200378521	9:116,151,315	G/A	—	likely benign
rs759917153	9:116,151,318	C/T	—	uncertain significance
rs1588082023	9:116,151,327	A/G	—	likely benign
rs775372297	9:116,151,333	C/T	—	likely benign
rs61729493	9:116,151,335	G/A	—	benign
rs121912981	9:116,151,365	C/T	missense variant	pathogenic
rs121912983	9:116,151,368	C/T	missense variant	pathogenic
rs751107367	9:116,151,369	G/A	—	likely benign
rs1305619721	9:116,151,375	G/C	—	likely benign
rs772389560	9:116,151,404	G/A	—	likely benign
rs8177813	9:116,151,501	C/T	—	benign
rs8177812	9:116,151,527	A/G	—	benign
rs375287171	9:116,151,703	C/T	—	likely benign
rs369933664	9:116,151,704	G/A	—	conflicting classifications of pathogenicity
rs752278186	9:116,151,722	T/C	—	uncertain significance
rs1417772488	9:116,151,727	T/C	—	likely benign
rs777485356	9:116,151,735	G/A	—	uncertain significance
rs374069780	9:116,151,739	G/T	—	likely benign
rs541796508	9:116,151,748	G/A	—	likely benign
rs769181980	9:116,151,749	T/C	—	uncertain significance
rs200180791	9:116,151,795	C/T	—	uncertain significance
rs121912982	9:116,151,801	G/A	missense variant	pathogenic
rs752186527	9:116,151,804	C/T	—	uncertain significance
rs201135240	9:116,151,818	G/T	—	conflicting classifications of pathogenicity
rs201420740	9:116,151,901	C/T	—	likely benign
rs190497588	9:116,151,915	C/A	—	conflicting classifications of pathogenicity
rs748726105	9:116,151,929	G/A	—	uncertain significance
rs777855664	9:116,151,932	G/A	—	uncertain significance
rs375689609	9:116,151,949	C/T	—	uncertain significance
rs778146437	9:116,152,038	C/T	—	likely benign
rs762540635	9:116,152,090	T/G	—	uncertain significance
rs753037931	9:116,152,103	C/T	—	likely benign
rs764647305	9:116,152,107	A/G	—	uncertain significance
rs1418828774	9:116,152,128	G/C	—	likely benign
rs2792823	9:116,152,441	G/A	—	benign
rs201604826	9:116,152,678	C/A	—	benign
rs1827540967	9:116,152,716	T/C	—	uncertain significance
rs750462706	9:116,152,734	C/T	—	uncertain significance
rs758622234	9:116,152,735	G/A	—	uncertain significance
rs376714503	9:116,152,754	C/T	—	conflicting classifications of pathogenicity
rs1482744476	9:116,152,763	C/T	—	likely benign
rs1057521379	9:116,152,771	A/T	—	uncertain significance
rs1234958476	9:116,152,784	G/A	—	likely benign
rs1454432774	9:116,152,872	C/A	—	likely pathogenic
rs1051120652	9:116,152,876	C/T	—	uncertain significance
rs1340298448	9:116,152,880	G/C	—	uncertain significance
rs41305619	9:116,152,886	C/T	—	likely benign

Showing 100 of 174 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.