AASS - aminoadipate-semialdehyde synthase Gene

中文名称：氨基己二酸半醛合酶

种属: Homo sapiens

同用名: LKRSDH; LORSDH; LKR/SDH

基因 ID: 10157 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一种双功能酶，可催化哺乳动物赖氨酸降解途径的前两个步骤。该酶的 N 端和 C 端部分分别含有赖氨酸-酮戊二酸还原酶和糖精脱氢酶活性，导致赖氨酸转化为 α-氨基己二酸半醛。该基因的突变与家族性高赖氨酸血症有关。[RefSeq 提供，2008 年 7 月]

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 基因产物(1)

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

基因本体论

分子功能
生物过程

分子功能 GO 注释	逻辑证据	参考文献	来源
enables saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity	IMP IMP: 通过突变表型推断	10775527	GOA
enables saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	IMP IMP: 通过突变表型推断	10775527	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in lysine catabolic process	IMP IMP: 通过突变表型推断	10775527	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

AASS 蛋白结构

AlaDh_PNT_N

AlaDh_PNT_C

Sacchrp_dh_NADP

0
200
400
600
800
926 a.a.

蛋白主名

其他名称

alpha-aminoadipic semialdehyde synthase, mitochondrial

alpha-aminoadipate semialdehyde synthase

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-159681	AASS-IN-1		98.40%	否
HY-RS00033	AASS Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 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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