ALAS1 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