AASS - aminoadipate-semialdehyde synthase Gene

Also Known as LKRSDH; LORSDH; LKR/SDH

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10157

About AASS

Cytogenetic location: 7q31.32 Genomic coordinates (GRCh38): 7:122,073,549-122,144,249 (from NCBI)

This gene has 27 transcripts (splice variants), 201 orthologues and is associated with 4 phenotypes. Ubiquitous expression in ovary (RPKM 13.5), liver (RPKM 12.5) and 24 other tissues.

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]

AASS Products (1)

mRNA	Protein	Name
NM_005763.4	NP_005754.2	alpha-aminoadipic semialdehyde synthase, mitochondrial

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity	IMP IMP: Inferred from mutant phenotype	10775527	GOA
enables saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	IMP IMP: Inferred from mutant phenotype	10775527	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in lysine catabolic process	IMP IMP: Inferred from mutant phenotype	10775527	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AASS Protein Structure

AlaDh_PNT_N

AlaDh_PNT_C

Sacchrp_dh_NADP

0
200
400
600
800
926 a.a.

Protein Preferred Names	Protein Names
alpha-aminoadipic semialdehyde synthase, mitochondrial	alpha-aminoadipate semialdehyde synthase

Related Diseases

Diseases	Alias
Hyperlysinemia, Type I	Hyperlysinemia Lysine Intolerance Alpha-Aminoadipic Semialdehyde Synthase Deficiency Lysine:Alpha-Ketoglutarate Reductase Deficiency L-Lysine:Nad-Oxido-Reductase Deficiency Lysine Alpha-Ketoglutarate Reductase Deficiency Alpha-Aminoadipic Semialdehyde Deficiency Disease Lysine Alpha-Ketoglutarate Reductase Deficiency Disease Saccharopinuria Hyperlysinemia Type I Hyperlysinemias L-Lysine Nad-Oxido-Reductase Deficiency Familial Hyperlysinemia Saccharopine Dehydrogenase Deficiency Disease Hyperlysinemia, 1 HYPLYS1 Saccharopine Dehydrogenase Deficiency
Saccharopinuria	Saccharopine Dehydrogenase Deficiency Hyperlysinemia, Type Ii Alpha-Aminoadipic Semialdehyde Synthase Deficiency Hyperlysinemia Type Ii Hyperlysinemia, Type I
2,4-Dienoyl-Coa Reductase Deficiency	Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency DECRD 2,4-Alpha Dienoyl-Coa Reductase Deficiency Dienoyl-Coa Reductase Deficiency Decr Deficiency With Hyperlysinemia
Chronic Polyneuropathy
Zellweger Syndrome	Cerebrohepatorenal Syndrome Zellweger Leukodystrophy Zs Congenital Iron Overload Chr Zws Severe Pbd-Zsd Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Peroxisome Biogenesis Disorder 1b	Peroxisome Biogenesis Disorder Infantile Refsum Disease Infantile Phytanic Acid Storage Disease PBD1B Refsum Disease, Infantile Adrenoleukodystrophy, Autosomal Neonatal Ird Mild Pbd-Zsd Mild Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder Pbd-Zsd Peroxisome Biogenesis Disorder Spectrum Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder Autosomal Neonatal Adrenoleukodystrophy Refsum Disease Infantile Peroxisome Biogenesis Disorders Peroxisome Biogenesis Disorder, Type 1b

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-159681	AASS-IN-1		98.40%	Unkown
HY-RS00033	AASS Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	AASS	VGNC	VGNC:25451
Mus musculus	AASS	MGD	MGI:1353573
Felis catus	AASS	VGNC	VGNC:59458
Canis familiaris	AASS	VGNC	VGNC:37419
Rattus norvegicus	AASS	RGD	RGD:1310811
Macaca mulatta	AASS	VGNC	VGNC:80320