AASS - aminoadipate-semialdehyde synthase Gene

Homo sapiens

Also known as LKRSDH; LORSDH; LKR/SDH

Gene ID: 10157 | Gene type: protein coding

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	Reference	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	Reference	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

Bioactive Molecules (2)

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

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