ACSL4 - acyl-CoA synthetase long chain family member 4 Gene

中文名称：酰基辅酶 A 合成酶长链家族成员 4

种属: Homo sapiens

同用名: ACS4; FACL4; LACS4; MRX63; MRX68; XLID63

基因 ID: 2182 | 基因类型: protein coding

关于 ACSL4

Cytogenetic location: Xq23 Genomic coordinates (GRCh38): X:109,641,335-109,733,257 (from NCBI)

This gene has 18 transcripts (splice variants), 271 orthologues, 12 paralogues and is associated with 4 phenotypes. Ubiquitous expression in adrenal (RPKM 24.5), appendix (RPKM 24.0) and 25 other tissues.

功能概要

该基因编码的蛋白质是长链脂肪酸辅酶 A 连接酶家族的一种同工酶。尽管底物特异性、亚细胞定位和组织分布不同，但该家族的所有同工酶都将游离的长链脂肪酸转化为脂肪酰基辅酶 A 酯，从而在脂质生物合成和脂肪酸降解中发挥关键作用。该同工酶优先利用花生四烯酸作为底物。缺乏这种酶可能会导致认知障碍或 Alport 综合征。该基因的选择性剪接会产生多个转录本变体。[RefSeq 提供，2016 年 1 月]

The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme preferentially utilizes arachidonate as substrate. The absence of this Enzyme may contribute to the cognitive disability or Alport syndrome. Alternative splicing of this gene generates multiple transcript variants. [provided by RefSeq, Jan 2016]

ACSL4 基因产物(4)

mRNA	Protein	Name
NM_001318509.2	NP_001305438.1	long-chain-fatty-acid--CoA ligase 4 isoform 2
NM_001318510.2	NP_001305439.1	long-chain-fatty-acid--CoA ligase 4 isoform 1
NM_004458.3	NP_004449.1	long-chain-fatty-acid--CoA ligase 4 isoform 1
NM_022977.3	NP_075266.1	long-chain-fatty-acid--CoA ligase 4 isoform 2

ACSL4 蛋白结构

AMP-binding

0
200
400
600
711 a.a.

蛋白主名

其他名称

long-chain-fatty-acid--CoA ligase 4

acyl-CoA synthetase 4

关联疾病

疾病名称

别名

Intellectual Developmental Disorder, X-Linked 63

XLID63	Mrx63
Mental Retardation, X-Linked 68	Mrx68

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability	Non-Specific X-Linked Mental Retardation
X-Linked Non-Specific Intellectual Disability

Stroke, Ischemic

Cerebral Infarction	Stroke
Ischemic Stroke	Cerebrovascular Accident
Cerebral Infarction, Susceptibility To	Stroke, Ischemic, Susceptibility To
Cerebral Infarct	Ischemic Stroke, Susceptibility To
Stroke, Susceptibility To	Cva - Cerebral Infarction
ISCHSTR	Ischemic Cerebrovascular Accident

Amme Complex

Alport Syndrome, Mental Retardation, Midface Hypoplasia, And Elliptocytosis	ATS-MR
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Chromosome Xq22.3 Telomeric Deletion Syndrome
Amme Syndrome	Alport Syndrome With Intellectual Disability, Midface Hypoplasia And Elliptocytosis

Alport Syndrome

Hereditary Nephritis	Alport Syndrome, X-Linked
Hemorrhagic Hereditary Nephritis	Congenital Hereditary Hematuria
Hemorrhagic Familial Nephritis	Familial Nephritis
Thin Basement Membrane Disease	Thin Basement Membrane Nephropathy
Hematuria-Nephropathy-Deafness Syndrome	Hematuric Hereditary Nephritis
Hereditary Familial Congenital Hemorrhagic Nephritis	Hereditary Hematuria Syndrome
Hereditary Interstitial Pyelonephritis	Alport Deafness-Nephropathy
Alport Hearing Loss-Nephropathy	Alports Syndrome
Nephritis, Hereditary

Non-Syndromic X-Linked Intellectual Disability 63

Acsl4-Related Intellectual Disability	Mrx63
Mrx68	X-Linked Mental Retardation 68

Syndromic X-Linked Intellectual Disability

X-Linked Syndromic Intellectual Disability

Her2-Receptor Negative Breast Cancer

Colon Adenocarcinoma

Adenocarcinoma Of Colon	Adenocarcinoma Of The Colon
Colonic Adenocarcinoma

Non-Syndromic X-Linked Intellectual Disability 30

Mrx30	Mrx47
X-Linked Mental Retardation 30/47	X-Linked Mental Retardation 47
Mental Retardation, X-Linked, Type 30/47

Hereditary Elliptocytosis

Congenital Elliptocytosis	Ovalocytosis
Elliptocytosis, Hereditary	He
Elliptocytosis Hereditary	Congenital Ovalocytosis
Elliptocytosis	Hereditary Elliptocytosis With Infantile Poikilocytosis
Hereditary Ovalocytosis	Oval Erythrocytosis
He - [Hereditary Elliptocytosis]	Elliptocytosis Anaemia

Her2-Receptor Positive Breast Cancer

Hepatocellular Carcinoma

Liver Cancer	Primary Liver Cancer
HCC	Hepatoma
Malignant Neoplasm Of Liver	Liver Neoplasms
Cancer, Hepatocellular	Liver Cell Carcinoma
Lcc	Hepatoblastoma, Somatic
Hepatic Cancer	Primary Malignant Neoplasm Of Liver
Rare Tumor Of Liver And Intrahepatic Biliary Tract	Hepatocellular Carcinoma, Somatic
Hepatocellular Carcinoma, Childhood Type, Somatic	Hepatocellular Cancer, Somatic
Ca Liver - Primary	Hepatic Neoplasm
Malignant Hepato-Biliary Neoplasm	Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary
Malignant Neoplasm Of Liver, Primary	Malignant Tumor Of Liver
Neoplasm Of Liver	Non-Resectable Primary Hepatic Malignant Neoplasm
Resectable Malignant Neoplasm Of Liver	Resectable Malignant Neoplasm Of The Liver
Primary Liver Carcinoma	Primary Malignant Liver Neoplasm
Primary Cancer Of Liver	Primary Tumor Of The Liver
Rare Tumor Of Liver And Ibt	Hepatocellular Cancer
Neoplasm Of The Liver	Carcinoma, Hepatocellular
Hepatomas	Liver Neoplasm
Liver Carcinoma	Liver And Intrahepatic Biliary Tract Carcinoma
Malignant Hepatobiliary Neoplasm	Adult Primary Hepatocellular Carcinoma
Hepatoblastoma	Carcinoma Of Liver
Malignant Liver Tumour	Malignant Hepatic Tumour

Sensorineural Hearing Loss

Sensory Hearing Loss	Sensorineural Deafness
Sensorineural Hearing Loss Disorder	Hearing Loss, Sensorineural
Central Hearing Loss	High Frequency Deafness
High Frequency Hearing Loss	High-Frequency Hearing Loss
Perceptive Deafness	Perceptive Hearing Loss
Perceptive Hearing Loss Or Deafness	Hearing Loss Sensorineural
Deafness Sensorineural	Hearing Loss High-Frequency
Hearing Loss, Central	Hearing Loss, High-Frequency

Hypotonia

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-139180	PRGL493	Inhibitor	99.64%	否
HY-155851	Lepadin E		/	否
HY-155852	Lepadin H	Inducer	/	否
HY-RS00202	ACSL4 Human Pre-designed siRNA Set A		/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	ACSL4	RGD	RGD:69401
Felis catus	ACSL4	VGNC	VGNC:59536
Bos taurus	ACSL4	VGNC	VGNC:25566
Macaca mulatta	ACSL4	VGNC	VGNC:69566
Mus musculus	ACSL4	MGD	MGI:1354713
Canis familiaris	ACSL4	VGNC	VGNC:37534

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。沪(浦)应急管危经许[2021]201709(QFYS)

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ACSL4 - acyl-CoA synthetase long chain family member 4 Gene

关于 ACSL4

功能概要

ACSL4 基因产物(4)

ACSL4 蛋白结构

关联疾病

直系同源

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ACSL4 - acyl-CoA synthetase long chain family member 4 Gene

关于 ACSL4

功能概要

ACSL4 基因产物(4)

ACSL4 蛋白结构

关联疾病

相关产品

直系同源

热门区域

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C

F

G

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