full name
5'-aminolevulinate synthase 2

synonyms
ALAS-E, ALASE, ANH1, ASB, XLDPP, XLEPP, XLSA, ALAS2, ENSG00000158578

HGNC
HGNC:397

Entrez Gene
Gene:212

ENSEMBL
ENSG00000158578

location
chr: X
start: 55035488
stop: 55057497
strand: -

OMIM
OMIM:301300: ALAS2 (X-linked recessive inheritance)
OMIM:300751: Anemia, sideroblastic, 1
OMIM:300752: Protoporphyria, erythropoietic, X-linked

transcripts
NM_001037967.3
NM_000032.4
NM_001037968.3

pathways
Glycine, serine and threonine metabolism [NCBI:82949] [KEGG:hsa00260] [PUBMED:7639721] [PUBMED:15520012] [PUBMED:11823218] [PUBMED:15470257] [PUBMED:10473374] [PUBMED:16707670] [PUBMED:17636255] [PUBMED:11341914]
Heme biosynthesis [NCBI:1270187] [REACTOME:R-HSA-189451] [PUBMED:16839620] [PUBMED:10522552]
Metabolic pathways [NCBI:132956] [KEGG:hsa01100]
Metabolism [NCBI:1269956] [REACTOME:R-HSA-1430728]
Metabolism of porphyrins [NCBI:1270186] [REACTOME:R-HSA-189445]
Porphyrin and chlorophyll metabolism [NCBI:83021] [KEGG:hsa00860] [PUBMED:12195810] [PUBMED:11283349] [PUBMED:10217486] [PUBMED:11007789] [PUBMED:10518530] [PUBMED:12055304] [PUBMED:12196148] [PUBMED:17506685] [PUBMED:16245042] [PUBMED:23922391] [PUBMED:23042036] [PUBMED:9461500]
heme biosynthesis [NCBI:545289] [BIOCYC:HUMAN_PWY-5920] [PUBMED:6769048] [PUBMED:7592564] [PUBMED:3816774] [PUBMED:20506125] [PUBMED:23471474] [PUBMED:9564029] [PUBMED:7592562] [PUBMED:3346226]
tetrapyrrole biosynthesis [NCBI:142231] [BIOCYC:HUMAN_PWY-5189] [PUBMED:16564539] [PUBMED:6769048] [PUBMED:17227226]