Anti-ALAS2 항체 (CAB6522)

Antibody Name:	Anti-ALAS2 Antibody
Antibody SKU:	CAB6522
Antibody Size:	20uL, 50uL, 100uL
Application:	WB IF
Reactivity:	Human, Mouse, Rat
Host Species:	Rabbit
Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 50-320 of human ALAS2 (NP_001033057.1).

Application:	WB IF
Recommended Dilution:	WB 1:500 - 1:2000 IF 1:10 - 1:100
Reactivity:	Human, Mouse, Rat
Positive Samples:	293T, Mouse liver, Mouse spleen, Mouse lung

Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 50-320 of human ALAS2 (NP_001033057.1).
Purification Method:	Affinity purification
Storage Buffer:	Store at -20°C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:	IgG
Sequence:	VKTH QFLF GIGR CPIL ATQG PNCS QIHL KATK AGGD SPSW AKGH CPFM LSEL QDGK SKIV QKAA PEVQ EDVK AFKT GNYV FSYD QFFR DKIM EKKQ DHTY RVFK TVNR WADA YPFA QHFS EASV ASKD VSVW CSND YLGM SRHP QVLQ ATQE TLQR HGAG AGGT RNIS GTSK FHVE LEQE LAEL HQKD SALL FSSC FVAN DSTL FTLA KILP GCEI YSDA GNHA SMIQ GIRN SGAA KFVF RHND PDHL KKLL EKSN PKIP KIVA FETV HSM
Gene ID:	212
Uniprot:	P22557
Cellular Location:	Mitochondrion matrix
Calculated MW:	49kDa/60kDa/63kDa/64kDa
Observed MW:	60kDa

Synonyms:	ALAS2, ALAS-E, ALASE, ANH1, ASB, SIDBA1, XLDPP, XLEPP, XLSA
Background:	The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified.

UniProt Protein Function:	ALAS2: Defects in ALAS2 are a cause of anemia sideroblastic X- linked (XLSA). Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus. XLSA shows a variable hematologic response to pharmacologic doses of pyridoxine. Defects in ALAS2 are the cause of erythropoietic protoporphyria X-linked dominant (XLDPT). Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. XLDPT is a form of porphyria characterized biochemically by a high proportion of zinc- protoporphyrin in erythrocytes, in which a mismatch between protoporphyrin production and the heme requirement of differentiating erythroid cells leads to overproduction of protoporphyrin in amounts sufficient to cause photosensitivity and liver disease. Gain of function mutations in ALS2 are responsible for XLDPT, but they can also be a possible aggravating factor in congenital erythropoietic porphyria and other erythropoietic disorders caused by mutations in other genes (PubMed:21309041). Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family. 3 isoforms of the human protein are produced by alternative splicing.
UniProt Protein Details:	Protein type:EC 2.3.1.37; Cofactor and Vitamin Metabolism - porphyrin and chlorophyll; Transferase; Amino Acid Metabolism - glycine, serine and threonine; Mitochondrial Chromosomal Location of Human Ortholog: Xp11.21 Cellular Component: mitochondrion; mitochondrial matrix; mitochondrial inner membrane Molecular Function:protein binding; 5-aminolevulinate synthase activity; glycine binding; coenzyme binding; pyridoxal phosphate binding Biological Process: hemoglobin biosynthetic process; oxygen homeostasis; cellular iron ion homeostasis; porphyrin metabolic process; response to hypoxia; erythrocyte differentiation; protoporphyrinogen IX biosynthetic process; heme biosynthetic process Disease: Anemia, Sideroblastic, X-linked; Protoporphyria, Erythropoietic, X-linked
NCBI Summary:	The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
UniProt Code:	P22557
NCBI GenInfo Identifier:	20141346
NCBI Gene ID:	212
NCBI Accession:	P22557.2
UniProt Secondary Accession:	P22557,Q13735, Q5JZF5, Q8N6H3, A8K3F0, A8K6C4,
UniProt Related Accession:	P22557
Molecular Weight:	587
NCBI Full Name:	5-aminolevulinate synthase, erythroid-specific, mitochondrial
NCBI Synonym Full Names:	5'-aminolevulinate synthase 2
NCBI Official Symbol:	ALAS2
NCBI Official Synonym Symbols:	ASB; ANH1; XLSA; ALASE; XLDPP; XLEPP; ALAS-E
NCBI Protein Information:	5-aminolevulinate synthase, erythroid-specific, mitochondrial; delta-ALA synthase 2; delta-ALA synthetase; 5-aminolevulinic acid synthase 2; delta-aminolevulinate synthase 2; aminolevulinate, delta-, synthase 2
UniProt Protein Name:	5-aminolevulinate synthase, erythroid-specific, mitochondrial
UniProt Synonym Protein Names:	5-aminolevulinic acid synthase 2; Delta-ALA synthase 2; Delta-aminolevulinate synthase 2
Protein Family:	Alanine--tRNA ligase
UniProt Gene Name:	ALAS2
UniProt Entry Name:	HEM0_HUMAN

	Western blot analysis of extracts of various cell lines, using ALAS2 antibody (CAB6522) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit (RM00020). Exposure time: 90s.
	Immunofluorescence analysis of HeLa cells using ALAS2 antibody (CAB6522). Blue: DAPI for nuclear staining.

Secondary Antibody

Anti-HRP Goat Anti-Rabbit IgG (H+L) Antibody (CABS014)