MuScle-logoMuScle - Molecule ID B7082

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
PADBENZ: enzyme, enzymatic properties

Studies, tissues and diseases

Study IDSpeciesNTissue / SourceCompartmentDiseaseFold change in diseaseP-valuePubMed/DOI
Exp17467740Homo sapiens10Blood RRMS_(IFN-Beta-1a_1_day_follow-up) (Multiple sclerosis)0.662.21E-0217467740
Exp20136355Homo sapiens50Blood RRMS_(rIFN-Beta-1b_12_month_follow-up) (Multiple sclerosis)1.372.14E-0220136355
Exp21216829Homo sapiens8BloodCD8+RRMS_(CD8+) (Multiple sclerosis)0.260.0425265821216829
Exp22021740Homo sapiens27Blood MS (Multiple sclerosis)0.071.65E-0622021740
Exp22252466AHomo sapiens16BloodCD34+/CD34- HPCRRMS_SPMS (Multiple sclerosis)0.031.06E-0822252466
Exp22252466AHomo sapiens16BloodCD34+/CD34- HPCRRMS_SPMS (Multiple sclerosis)0.038.20E-0922252466

Compile date 09-07-2016© MuScle project