ALAS1 Recombinant Monoclonal Antibody

1. The mutation in CLPX inactivates its ATPase activity, resulting in coassembly of mutant and WT protomers to form an enzyme with reduced activity. The presence of low-activity CLPX increases the posttranslational stability of ALAS, causing increased ALAS protein and ALA levels, leading to abnormal accumulation of PPIX. PMID: 28874591
2. the heme-binding site in the N-terminal region of the mature ALAS1 protein is also necessary for the heme-dependent oxidation of ALAS1. PMID: 27496948
3. ALAS1 mRNA and activity were elevated approximately ~3- and 5-fold, and HMB synthase activity was approximately half-normal (~42%) PMID: 26062020
4. The -853T variant functions as an enhancer in the presence of estrogen and speculates that the -1253A variant reduces transcription activity. PMID: 19656447
5. These results indicate that ALAS1 is a novel NR5A-target gene and participates in steroid hormone production. PMID: 23024262
6. Lon peptidase 1 (LONP1)-dependent breakdown of mitochondrial 5-aminolevulinic acid synthase protein by heme in human liver cells. PMID: 21659532
7. REVIEW:active site and mechanistic analysis, protein folding, structure and function. PMID: 11929042
8. REVIEW: mechanisms involving ALAS deficiency, point mutations, post translational processing, and complex formation with succinyl CoA synthetase subunit B in the pathogenesis of hereditary sideroblastic anemia. PMID: 11929048
9. ALAS expression is regulated by AP-1 complex through sequestration of cAMP-response element protein (CRE)-binding protein (CBP) coactivator in human cells PMID: 12433930
10. ALAS gene expression is regulated by Hepatic nuclear factor 3 and nuclear factor 1 PMID: 15123725
11. First described frameshift ALAS2 mutation, CD506-507 (-C). PMID: 15477213
12. in the liver of Acute liver failure patients, there may be an increase in free heme concentration which down-regulating ALAS1 gene expression PMID: 15547665
13. Alternative splicing of human ALAS1 generates two mRNAs with different 5'-UTRs: a major one, where exon 1B is omitted, and a minor form containing exon 1B. PMID: 15710391
14. 5-aminolevulinate synthase gene repression by the potent tumor promoter, TPA, involves multiple signal transduction pathways PMID: 15797241
15. Expression of candidate genes HPRT1 and ALAS1 in malignant and non-malignant prostate tissue samples after microdissection. PMID: 17628775
16. Differential regulation of human ALAS1 mRNA and protein levels by heme and cobalt protoporphyrin. PMID: 18719978
17. In this study, we show significant reductions of the rate-limiting enzymes involved in heme biosynthesis, ALAS1 in the postmortem cortex of Alzheimer's disease subjects, providing additional evidence of abnormal heme homeostasis in Alzheimer's disease. PMID: 19477221

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HGNC: 396

OMIM: 125290

KEGG: hsa:211

STRING: 9606.ENSP00000309259

UniGene: Hs.476308