Name: Anti-AASS Antibody (CAB12863)
Brand: Cell Biology Antibodies 14
SKU: CAB12863
Availability: OutOfStock

Antibody Name:	Anti-AASS Antibody
Antibody SKU:	CAB12863
Antibody Size:	20uL, 50uL, 100uL
Application:	WB
Reactivity:	Human, Mouse, Rat
Host Species:	Rabbit
Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 180-400 of human AASS (NP_005754.2).

Application:	WB
Recommended Dilution:	WB 1:500 - 1:2000
Reactivity:	Human, Mouse, Rat
Positive Samples:	293T, Mouse kidney, Mouse liver, Mouse heart, Mouse brain, Rat kidney

Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 180-400 of human AASS (NP_005754.2).
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:	MHIG MAHN YRNS SQAV QAVR DAGY EISL GLMP KSIG PLTF VFTG TGNV SKGA QAIF NELP CEYV EPHE LKEV SQTG DLRK VYGT VLSR HHHL VRKT DAVY DPAE YDKH PERY ISRF NTDI APYT TCLI NGIY WEQN TPRL LTRQ DAQS LLAP GKFS PAGV EGCP ALPH KLVA ICDI SADT GGSI EFMT ECTT IEHP FCMY DADQ HIIH DSVE GSGI LMCS I
Gene ID:	10157
Uniprot:	Q9UDR5
Cellular Location:	Mitochondrion
Calculated MW:	102kDa
Observed MW:	102kDa

Western blot - AASS Polyclonal Antibody (CAB12863)

Synonyms:

AASS, LKR/SDH, LKRSDH, LORSDH

Background:

This gene encodes a bifunctional enzyme that catalyzes the first two steps in the mammalian lysine degradation pathway. The N-terminal and the C-terminal portions of this enzyme contain lysine-ketoglutarate reductase and saccharopine dehydrogenase activity, respectively, resulting in the conversion of lysine to alpha-aminoadipic semialdehyde. Mutations in this gene are associated with familial hyperlysinemia.

UniProt Protein Function:	AASS: Bifunctional enzyme that catalyzes the first two steps in lysine degradation. The N-terminal and the C-terminal contain lysine-ketoglutarate reductase and saccharopine dehydrogenase activity, respectively. Defects in AASS are the cause of hyperlysinemia (HYPLYS). Hyperlysinemia is an autosomal recessive condition characterized by hyperlysinemia lysinuria and variable saccharopinuria.
UniProt Protein Details:	Protein type:Amino Acid Metabolism - lysine degradation; EC 1.5.1.8; Oxidoreductase; Mitochondrial; Amino Acid Metabolism - lysine biosynthesis; EC 1.5.1.9 Chromosomal Location of Human Ortholog: 7q31.3 Cellular Component: intracellular membrane-bound organelle; mitochondrial matrix; mitochondrion Molecular Function:saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity; saccharopine dehydrogenase (NADP+, L-lysine-forming) activity Biological Process: lysine catabolic process; protein tetramerization Disease: Hyperlysinemia, Type I; Saccharopinuria
NCBI Summary:	This gene encodes a bifunctional enzyme that catalyzes the first two steps in the mammalian lysine degradation pathway. The N-terminal and the C-terminal portions of this enzyme contain lysine-ketoglutarate reductase and saccharopine dehydrogenase activity, respectively, resulting in the conversion of lysine to alpha-aminoadipic semialdehyde. Mutations in this gene are associated with familial hyperlysinemia. [provided by RefSeq, Jul 2008]
UniProt Code:	Q9UDR5
NCBI GenInfo Identifier:	46396032
NCBI Gene ID:	10157
NCBI Accession:	Q9UDR5.1
UniProt Secondary Accession:	Q9UDR5,O95462,
UniProt Related Accession:	Q9UDR5
Molecular Weight:	102,132 Da
NCBI Full Name:	Alpha-aminoadipic semialdehyde synthase, mitochondrial
NCBI Synonym Full Names:	aminoadipate-semialdehyde synthase
NCBI Official Symbol:	AASS
NCBI Official Synonym Symbols:	LKRSDH; LORSDH; LKR/SDH
NCBI Protein Information:	alpha-aminoadipic semialdehyde synthase, mitochondrial
UniProt Protein Name:	Alpha-aminoadipic semialdehyde synthase, mitochondrial
UniProt Synonym Protein Names:	LKR/SDHIncluding the following 2 domains:Lysine ketoglutarate reductase (EC:1.5.1.8); LKR; LORSaccharopine dehydrogenase (EC:1.5.1.9); SDH
UniProt Gene Name:	AASS
UniProt Entry Name:	AASS_HUMAN