ALAS1

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Aminolevulinate, delta-, synthase 1
Identifiers
Symbols ALAS1 ; ALAS; ALAS3; ALASH; MIG4
External IDs OMIM125290 MGI87989 HomoloGene55478 ChEMBL: 1960 GeneCards: ALAS1 Gene
EC number 2.3.1.37
Orthologs
Species Human Mouse
Entrez 211 11655
Ensembl ENSG00000023330 ENSMUSG00000032786
UniProt P13196 Q8VC19
RefSeq (mRNA) NM_000688 NM_020559
RefSeq (protein) NP_000679 NP_065584
Location (UCSC) Chr 3:
52.23 – 52.25 Mb
Chr 9:
106.23 – 106.25 Mb
PubMed search [1] [2]

Delta-aminolevulinate synthase 1 also known as ALAS1 is a protein that in humans is encoded by the ALAS1 gene.[1][2] ALAS1 is an aminolevulinic acid synthase.

Delta-aminolevulinate synthase catalyzes the condensation of glycine with succinyl-CoA to form delta-aminolevulinic acid. This nuclear-encoded mitochondrial enzyme is the first and rate-limiting enzyme in the mammalian heme biosynthetic pathway. There are 2 tissue-specific isozymes: a housekeeping enzyme encoded by the ALAS1 gene and an erythroid tissue-specific enzyme encoded by ALAS2.[2]

References[edit]

  1. ^ Bishop DF, Henderson AS, Astrin KH (June 1990). "Human delta-aminolevulinate synthase: assignment of the housekeeping gene to 3p21 and the erythroid-specific gene to the X chromosome". Genomics 7 (2): 207–14. doi:10.1016/0888-7543(90)90542-3. PMID 2347585. 
  2. ^ a b "Entrez Gene: Delta-aminolevulinate synthase 1". 

Further reading[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.