5-aminolevulinate synthase, erythroid-specific, mitochondrial isoform - Protein

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Congenital sideroblastic anemia model due to ALAS2 mutation is susceptible to ferroptosis. [Sci Rep. 2022]
Congenital sideroblastic anemia model due to ALAS2 mutation is susceptible to ferroptosis.
Ono K, Fujiwara T, Saito K, Nishizawa H, Takahashi N, Suzuki C, Ochi T, Kato H, Ishii Y, Onodera K, et al. Sci Rep. 2022 May 30; 12(1):9024. Epub 2022 May 30.
A synonymous coding variant that alters ALAS2 splicing and causes X-linked sideroblastic anemia. [Pediatr Blood Cancer. 2022]
A synonymous coding variant that alters ALAS2 splicing and causes X-linked sideroblastic anemia.
Oakley JH, Campagna DR, Sun L, Rockowitz S, Sliz P, Boudreaux J, Woods G, Fleming MD. Pediatr Blood Cancer. 2022 Jan; 69(1):e29309. Epub 2021 Aug 19.
A mutation in the iron-responsive element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated erythropoietic protoporphyria. [Haematologica. 2021]
A mutation in the iron-responsive element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated erythropoietic protoporphyria.
Ducamp S, Luscieti S, Ferrer-Cortès X, Nicolas G, Manceau H, Peoc'h K, Yien YY, Kannengiesser C, Gouya L, Puy H, et al. Haematologica. 2021 Jul 1; 106(7):2030-2033. Epub 2021 Jul 1.

RefSeq genomic sequence
See the genomic reference sequence for the ALAS2 gene (NG_008983.1).
RefSeq mRNA
See reference mRNA sequence for the ALAS2 gene (NM_000032.5).
RefSeq protein isoforms
See 3 reference sequence protein isoforms for the ALAS2 gene.

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NP_000023 [Domain Mapping of Disease Mut...]
NP_000023
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
GlyGen glycoinformatics resource [GlyGen glycoinformatics resou...]
GlyGen glycoinformatics resource
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
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reagent reviews [ExactAntigen/Labome]
reagent reviews
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reagents [ExactAntigen/Labome]
reagents
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Find Quality Antibodies [GeneTex Inc]
Find Quality Antibodies
GeneTex Inc

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