2. Gene
  3. ACADSB - acyl-CoA dehydrogenase short/branched chain Gene

ACADSB - acyl-CoA dehydrogenase short/branched chain Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：酰基辅酶 A 脱氢酶短链/支链

种属: Homo sapiens

同用名: ACAD7; SBCAD; 2-MEBCAD

基因 ID: 36 | 基因类型: protein coding

关于 ACADSB

Cytogenetic location: 10q26.13 Genomic coordinates (GRCh38): 10:123,009,006-123,058,290 (from NCBI)

This gene has 4 transcripts (splice variants), 214 orthologues, 14 paralogues and is associated with 2 phenotypes. Broad expression in liver (RPKM 72.3), kidney (RPKM 32.5) and 16 other tissues.

功能概要

短链/支链酰基辅酶 A 脱氢酶 (ACADSB) 是酰基辅酶 A 脱氢酶家族的成员，可催化脂肪酸或支链氨基酸代谢中酰基辅酶 A 衍生物的脱氢作用。底物特异性是用于定义该基因家族成员的主要特征。 ACADSB 基因产物对短支链酰基辅酶 A 衍生物 (S) -2-甲基丁酰辅酶 A 具有最大活性，但也与其他 2-甲基支链底物和短直链酰基辅酶 A 发生显着反应。 cDNA 编码线粒体前体蛋白，该蛋白在线粒体输入时被切割，预计产生约 43.7-KDa 的成熟肽。[RefSeq 提供，2008 年 7 月]

Short/branched chain acyl-CoA dehydrogenase(ACADSB) is a member of the acyl-CoA dehydrogenase family of Enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained Amino acids. Substrate specificity is the primary characteristic used to define members of this gene family. The ACADSB gene product has the greatest activity towards the short branched chain acyl-CoA derivative, (S)-2-methylbutyryl-CoA, but also reacts significantly with Other 2-methyl branched chain substrates and with short straight chain acyl-CoAs. The cDNA encodes for a mitochondrial precursor protein which is cleaved upon mitochondrial import and predicted to yield a mature peptide of approximately 43.7-KDa. [provided by RefSeq, Jul 2008]

ACADSB 基因产物(2)

mRNA Protein Name
NM_001330174.3 NP_001317103.1 short/branched chain specific acyl-CoA dehydrogenase, mitochondrial isoform 2
NM_001609.4 NP_001600.1 short/branched chain specific acyl-CoA dehydrogenase, mitochondrial isoform 1 precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables identical protein binding IDA
IDA: 通过直接分析推断
11013134 GOA
enables short-chain 2-methyl fatty acyl-CoA dehydrogenase activity IDA
IDA: 通过直接分析推断
7698750 GOA
enables short-chain fatty acyl-CoA dehydrogenase activity IDA
IDA: 通过直接分析推断
7698750 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in fatty acid metabolic process IDA
IDA: 通过直接分析推断
7698750 GOA
involved in isoleucine catabolic process IMP
IMP: 通过突变表型推断
11013134 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrion IDA
IDA: 通过直接分析推断
11013134 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

ACADSB 蛋白结构

Acyl-CoA_dh_N

Acyl-CoA_dh_N: Acyl-CoA dehydrogenase, N-terminal domain (58 - 168)

Acyl-CoA_dh_M

Acyl-CoA_dh_M: Acyl-CoA dehydrogenase, middle domain (173 - 223)

Acyl-CoA_dh_1

Acyl-CoA_dh_1: Acyl-CoA dehydrogenase, C-terminal domain (280 - 428)

  • 0
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  • 432 a.a.
蛋白主名 其他名称

short/branched chain specific acyl-CoA dehydrogenase, mitochondrial

2-methyl branched chain acyl-CoA dehydrogenase

关联疾病

疾病名称 别名
2-Methylbutyryl-Coa Dehydrogenase Deficiency

Short/Branched-Chain Acyl-Coa Dehydrogenase Deficiency

2-Methylbutyryl Glycinuria

SBCADD

2-Methylbutyrylglycinuria

2-Methylbutyric Aciduria

Sbcad Deficiency

Deficiency Of 2-Methylbutyryl-Coa Dehydrogenase

Short Branched-Chain Acyl-Coa Dehydrogenase Deficiency

Short/Branched Chain Acyl-Coa Dehydrogenase Deficiency

2-Mbadd

2-Mbcd Deficiency

2-Mbg

2-Methylbutyryl-Coenzyme A Dehydrogenase Deficiency

Developmental Delay Due To 2-Methylbutyryl-Coa Dehydrogenase Deficiency
Acyl-Coa Dehydrogenase Deficiency
Isovaleric Acidemia

Isovaleric Acid Coa Dehydrogenase Deficiency

Isovaleryl-Coa Dehydrogenase Deficiency

IVA

Ivd Deficiency

Acidemia, Isovaleric

Isovaleric Aciduria

Isovaleryl Coa Carboxylase Deficiency

Isovaleric Acid-Coa Dehydrogenase Deficiency
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of

Scad Deficiency

Acads Deficiency

Lipid-Storage Myopathy Secondary To Short-Chain Acyl-Coa Dehydrogenase Deficiency

Scadh Deficiency

Short-Chain Acyl-Coa Dehydrogenase Deficiency

Deficiency Of Butyryl-Coa Dehydrogenase

Short Chain Acyl-Coa Dehydrogenase Deficiency

ACADSD

Scadd

Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Acyl-Coa Dehydrogenase, Short Chain, Deficiency Of

Acyl-Coa Dehydrogenase Short-Chain Deficiency
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

相关产品

Pre-clinical Phase
生物活性分子 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS00130 ACADSB Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS20132 Acadsb Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS26636 Acadsb Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta ACADSB VGNC VGNC:81343
Felis catus ACADSB VGNC VGNC:97338
Canis familiaris ACADSB VGNC VGNC:52979
Rattus norvegicus ACADSB RGD RGD:2013
Mus musculus ACADSB MGD MGI:1914135
Bos taurus ACADSB VGNC VGNC:50245
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