2. Gene
  3. ACADL - acyl-CoA dehydrogenase long chain Gene

ACADL - acyl-CoA dehydrogenase long 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 脱氢酶长链

种属: Homo sapiens

同用名: LCAD; ACAD4

基因 ID: 33 | 基因类型: protein coding

关于 ACADL

Cytogenetic location: 2q34 Genomic coordinates (GRCh38): 2:210,187,923-210,225,447 (from NCBI)

This gene has 5 transcripts (splice variants), 214 orthologues and 14 paralogues. Broad expression in thyroid (RPKM 10.1), fat (RPKM 9.6) and 14 other tissues.

功能概要

该基因编码的蛋白质属于酰基辅酶 A 脱氢酶家族，该家族是参与脂肪酸和支链氨基酸代谢的线粒体黄素酶家族。这种蛋白质是催化直链脂肪酸线粒体 β-氧化初始步骤的四种酶之一。该基因的缺陷是长链酰基辅酶 A 脱氢酶 (LCAD) 缺乏的原因，可导致非酮症性低血糖。[RefSeq 提供，2008 年 7 月]

The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family, which is a family of mitochondrial flavoenzymes involved in fatty acid and branched chain amino-acid metabolism. This protein is one of the four Enzymes that catalyze the initial step of mitochondrial beta-oxidation of straight-chain fatty acid. Defects in this gene are the cause of long-chain acyl-CoA dehydrogenase (LCAD) deficiency, leading to nonketotic hypoglycemia. [provided by RefSeq, Jul 2008]

ACADL 基因产物(1)

mRNA Protein Name
NM_001608.4 NP_001599.1 long-chain specific acyl-CoA dehydrogenase, mitochondrial precursor
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
28514442 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

ACADL 蛋白结构

Acyl-CoA_dh_N

Acyl-CoA_dh_N: Acyl-CoA dehydrogenase, N-terminal domain (54 - 165)

Acyl-CoA_dh_M

Acyl-CoA_dh_M: Acyl-CoA dehydrogenase, middle domain (169 - 219)

Acyl-CoA_dh_1

Acyl-CoA_dh_1: Acyl-CoA dehydrogenase, C-terminal domain (278 - 426)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 430 a.a.
蛋白主名 其他名称

long-chain specific acyl-CoA dehydrogenase, mitochondrial

acyl-Coenzyme A dehydrogenase, long chain

ACADL 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
ACADL P28330 TGM1 Homo sapiens P22735
Y2H Array
32296183
种属内
ACADL P28330 TGM1 Homo sapiens P22735
Y2H Prey Pooling
32296183
种属内
ACADL P28330 SYT2 Homo sapiens Q8N9I0
Anti Tag CoIP
33961781
种属内
ACADL P28330 SYT2 Homo sapiens Q8N9I0
Anti Tag CoIP
28514442
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of

Vlcad Deficiency

Very Long Chain Acyl-Coa Dehydrogenase Deficiency

Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Lcad Deficiency

Very Long-Chain Acyl-Coa Dehydrogenase Deficiency

Long Chain Acyl-Coa Dehydrogenase Deficiency

ACADVLD

Acadl Deficiency

Vlcadd

Long-Chain Acyl-Coa Dehydrogenase Deficiency

Acadvl

Acyl-Coa Dehydrogenase Very Long Chain Deficiency

Very Long-Chain Acyl Coenzyme A Dehydrogenase Deficiency

Vlcad-C

Vlcad-H

Acyl-Coa Dehydrogenase, Very Long Chain, Deficiency Of

Acyl-Coa Dehydrogenase Very Long-Chain Deficiency

Acyl-Coa Dehydrogenase Long-Chain Deficiency

Deficiency, Very Long Chain Acyl-Coa Dehydrogenase

Long Chain/Very Long Chain Acyl Coa Dehydrogenase Deficiency
Hypoglycemia

Hypoglycaemia

Low Blood Sugar

Hypoglycaemia Nos

Spontaneous Hypoglycaemia

Nondiabetic Hypoglycaemia

Hypoglycaemic Disorder Nos

Hypoglycaemic Syndrome
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of

Mcad Deficiency

Carnitine Deficiency Secondary To Medium-Chain Acyl-Coa Dehydrogenase Deficiency

Acadm Deficiency

Acyl-Coa Dehydrogenase, Medium Chain, Deficiency Of

Medium Chain Acyl-Coa Dehydrogenase Deficiency

ACADMD

Mcadh Deficiency

Mcadd

Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Acyl-Coa Dehydrogenase Medium-Chain Deficiency

Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Medium Chain Acyl Dehydrogenase Deficiency
Ureter Transitional Cell Carcinoma

Transitional Cell Carcinoma Of Ureter

Ureteral Urothelial Cell Carcinoma
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 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS00127 ACADL Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus ACADL MGD MGI:87866
Rattus norvegicus ACADL RGD RGD:2011
Bos taurus ACADL VGNC VGNC:25523
Felis catus ACADL VGNC VGNC:68769
Macaca mulatta ACADL VGNC VGNC:69594
Canis familiaris ACADL VGNC VGNC:37493
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