ALDOB

aldolase, fructose-bisphosphate B

Summary

Fructose-1,6-bisphosphate aldolase (EC 4.1.2.13) is a tetrameric glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Vertebrates have 3 aldolase isozymes which are distinguished by their electrophoretic and catalytic properties. Differences indicate that aldolases A, B, and C are distinct proteins, the products of a family of related 'housekeeping' genes exhibiting developmentally regulated expression of the different isozymes. The developing embryo produces aldolase A, which is produced in even greater amounts in adult muscle where it can be as much as 5% of total cellular protein. In adult liver, kidney and intestine, aldolase A expression is repressed and aldolase B is produced. In brain and other nervous tissue, aldolase A and C are expressed about equally. There is a high degree of homology between aldolase A and C. Defects in ALDOB cause hereditary fructose intolerance. [provided by RefSeq, Dec 2008]

Known Variants411 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs491979	9:104,182,940	C/T	—	benign
rs41296051	9:104,182,972	G/A	—	uncertain significance
rs80292759	9:104,183,088	T/C	—	benign
rs886063287	9:104,183,193	A/G	—	uncertain significance
rs17772839	9:104,183,194	C/T	—	benign
rs181650438	9:104,183,242	A/G	—	likely benign
rs780375040	9:104,183,272	T/G	—	uncertain significance
rs886063288	9:104,183,289	T/C	—	uncertain significance
rs555999328	9:104,183,339	G/C	—	likely benign
rs1831039466	9:104,183,362	C/G	—	uncertain significance
rs886063289	9:104,183,377	T/C	—	uncertain significance
rs1831039987	9:104,183,408	A/G	—	uncertain significance
rs41296049	9:104,183,479	T/C	—	benign
rs978202633	9:104,183,523	C/T	—	uncertain significance
rs540272117	9:104,183,524	G/A	—	likely benign
rs41308902	9:104,183,539	A/T	—	benign
rs1402343211	9:104,183,575	A/T	—	likely pathogenic
rs748992077	9:104,183,578	C/T	—	likely benign
rs17772845	9:104,183,586	G/T	—	benign
rs954756064	9:104,183,588	A/G	—	uncertain significance
rs886063290	9:104,183,802	G/C	—	uncertain significance
rs886063291	9:104,183,805	G/A	—	uncertain significance
rs142431256	9:104,183,823	A/G	—	uncertain significance
rs1038724691	9:104,183,882	G/A	—	uncertain significance
rs17772869	9:104,183,885	G/T	—	benign
rs185986022	9:104,183,902	G/A	—	benign
rs192418526	9:104,183,939	T/C	—	likely benign
rs552865615	9:104,183,946	T/C	—	uncertain significance
rs41310087	9:104,183,969	C/T	—	benign
rs4577	9:104,184,022	G/A	—	benign
rs1831050459	9:104,184,065	G/A	—	uncertain significance
rs767816195	9:104,184,072	G/A	—	likely benign
rs201867948	9:104,184,079	G/A	—	conflicting classifications of pathogenicity
rs900220679	9:104,184,091	C/G	—	uncertain significance
rs781491253	9:104,184,097	G/C	—	likely benign
rs1312905893	9:104,184,115	G/T	—	likely benign
rs377173333	9:104,184,118	C/T	—	likely benign
rs1218895360	9:104,184,121	C/T	—	likely benign
rs1554702065	9:104,184,123	G/A	—	uncertain significance
rs779217157	9:104,184,124	G/C	—	likely benign
rs2490114004	9:104,184,127	G/A	—	likely benign
rs760103496	9:104,184,139	A/G	—	likely benign
rs2118333009	9:104,184,142	A/G	—	likely benign
rs768168363	9:104,184,148	C/T	—	likely benign
rs761508514	9:104,184,151	G/A	—	likely benign
rs1243910791	9:104,184,156	C/T	—	likely benign
rs369586696	9:104,184,159	A/G	missense variant	uncertain significance
rs995263904	9:104,184,160	C/T	—	likely benign
rs546735701	9:104,184,172	C/T	—	conflicting classifications of pathogenicity
rs77718928	9:104,184,173	G/A	missense variant	pathogenic
rs566549564	9:104,184,175	C/T	—	likely benign
rs2490114146	9:104,184,178	G/A	—	likely benign
rs78340951	9:104,184,181	G/C	missense variant	pathogenic
rs369238799	9:104,184,189	A/G	—	conflicting classifications of pathogenicity
rs2490114194	9:104,184,192	A/G	—	likely benign
rs376169475	9:104,184,198	A/G	—	likely benign
rs772352607	9:104,184,199	T/C	—	likely benign
rs1251000433	9:104,184,200	A/G	—	likely benign
rs371630174	9:104,184,203	A/G	—	likely benign
rs2490114237	9:104,184,206	G/C	—	likely benign
rs476934	9:104,186,503	T/C	intron variant	—
rs682	9:104,187,020	T/C	—	benign
rs681	9:104,187,041	A/G	—	benign
rs774203882	9:104,187,107	G/A	—	likely benign
rs2490118359	9:104,187,111	T/C	—	likely benign
rs1831099201	9:104,187,113	G/T	—	likely benign
rs2490118371	9:104,187,115	A/G	—	likely benign
rs2490118398	9:104,187,123	A/G	—	pathogenic
rs1334639976	9:104,187,128	G/A	—	likely benign
rs371526091	9:104,187,132	C/T	—	uncertain significance
rs150407710	9:104,187,133	G/A	—	uncertain significance
rs952816406	9:104,187,152	G/A	—	likely benign
rs2118341906	9:104,187,153	G/A	—	uncertain significance
rs149166711	9:104,187,158	C/T	—	likely benign
rs1172384674	9:104,187,160	C/A	—	pathogenic
rs755508323	9:104,187,168	G/A	—	uncertain significance
rs572044496	9:104,187,170	A/G	—	conflicting classifications of pathogenicity
rs1364757729	9:104,187,172	C/A	—	uncertain significance
rs2118342090	9:104,187,176	G/T	—	likely benign
rs1434492091	9:104,187,177	C/A	—	uncertain significance
rs1554702325	9:104,187,183	C/T	—	likely pathogenic
rs2490118612	9:104,187,190	C/T	—	uncertain significance
rs541062220	9:104,187,191	C/T	—	likely benign
rs2118342191	9:104,187,192	A/G	—	likely pathogenic
rs1588170073	9:104,187,193	G/A	—	likely benign
rs1279118299	9:104,187,197	A/G	—	likely benign
rs748901188	9:104,187,201	G/A	—	uncertain significance
rs1831101402	9:104,187,203	C/T	—	likely benign
rs1400203483	9:104,187,209	G/A	—	likely benign
rs1322689394	9:104,187,210	G/A	—	likely pathogenic
rs1588170091	9:104,187,212	C/G	—	likely benign
rs145078268	9:104,187,213	C/G	missense variant	uncertain significance
rs555935217	9:104,187,214	G/A	—	uncertain significance
rs138866018	9:104,187,218	A/G	—	conflicting classifications of pathogenicity
rs1195160136	9:104,187,233	T/C	—	likely benign
rs1057517133	9:104,187,236	C/T	stop gained	pathogenic
rs1249398093	9:104,187,237	C/T	—	pathogenic
rs765247994	9:104,187,251	A/T	—	likely benign
rs766799391	9:104,187,254	G/A	—	likely benign
rs118204425	9:104,187,257	—	—	pathogenic

Showing 100 of 411 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.