CKDdb-logoCKDdb - Molecule ID A6708

geneALAS2, ALASE, ASB
name5-aminolevulinate synthase 2
speciesHomo sapiens

Molecule reference

SwissProtUniProtEnsEMBLGeneIDUniGeneOMIM
HEM0_HUMANP22557ENSG00000158578212Hs.522666300751, 300752, 301300

Functions and classifications

GOC:mitochondrial inner membrane, C:mitochondrial matrix, F:5-aminolevulinate synthase activity, F:coenzyme binding, F:glycine binding, F:pyridoxal phosphate binding, P:cellular iron ion homeostasis, P:erythrocyte differentiation, P:heme biosynthetic process, P:hemoglobin biosynthetic process, P:oxygen homeostasis, P:protoporphyrinogen IX biosynthetic process, P:response to hypoxia, P:small molecule metabolic process, F:catalytic activity, P:metabolic process, P:biosynthetic process, P:porphyrin-containing compound metabolic process, P:tetrapyrrole biosynthetic process, C:mitochondrion
UniProtAcyltransferase, Alternative splicing, Complete proteome, Disease mutation, Heme biosynthesis, Mitochondrion, Pyridoxal phosphate, Reference proteome, Transferase, Transit peptide
PADBenzyme, enzymatic properties

Studies, tissues and diseases

Study IDSpeciesNTissue / SourceCompartmentDiseaseFold change in diseaseP-valueDetectionPubMed/DOI
Exp19698090bHomo sapiens25bloodmononuclear cellsDialysis (hemodialysis)0.010.000215RNA microarray19698090
Exp22970174Mus musculus8kidneywholeChronic_Renal_Insufficiency (mouse_CKD_model)0.28< 0.05RNA microarray22970174
Exp23757392bRattus norvegicus13kidneywholeDiabetes (diabetic nephropathy)2.25< 0.05RNA-seq23757392
Exp24569379Mus musculus kidneyendothelial cellsAKI (AKI)3.80.00000162RNA microarray24569379

Compile date 08-10-2018© iMODE-CKD consortium