ACSL3 - acyl-CoA synthetase long chain family member 3 Gene

Homo sapiens

Also known as ACS3; FACL3; LACS3; LACS 3; PRO2194

Gene ID: 2181 | Gene type: protein coding

About ACSL3

Cytogenetic location: 2q36.1 Genomic coordinates (GRCh38): 2:222,861,036-222,944,639 (from NCBI)

This gene has 36 transcripts (splice variants), 248 orthologues, 12 paralogues and is associated with 62 phenotypes. Ubiquitous expression in prostate (RPKM 44.8), brain (RPKM 31.0) and 24 other tissues.

Summary

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 is highly expressed in brain, and preferentially utilizes myristate, arachidonate, and eicosapentaenoate as substrates. The amino acid sequence of this isozyme is 92% identical to that of rat homolog. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

ACSL3 Products(4)

mRNA	Protein	Name
NM_001354158.2	NP_001341087.1	fatty acid CoA ligase Acsl3
NM_001354159.2	NP_001341088.1	fatty acid CoA ligase Acsl3
NM_004457.5	NP_004448.2	fatty acid CoA ligase Acsl3
NM_203372.3	NP_976251.1	fatty acid CoA ligase Acsl3

ACSL3 Protein Structure

AMP-binding

0
200
400
600
720 a.a.

Protein Preferred Names

Protein Names

fatty acid CoA ligase Acsl3

arachidonate--CoA ligase

Related Diseases

Diseases

Alias

Intellectual Developmental Disorder, Autosomal Dominant 38

Psychomotor Retardation, Epilepsy, And Language Disability Syndrome	MRD38
Prelds	Autosomal Dominant Non-Syndromic Intellectual Disability 38
Mental Retardation, Autosomal Dominant 38	Autosomal Dominant Intellectual Developmental Disorder 38
Autosomal Dominant Mental Retardation 38	Mental Retardation, Autosomal Dominant, Type 38

Saethre-Chotzen Syndrome

SCS	Acs3
Acs Iii	Chotzen Syndrome
Acrocephaly, Skull Asymmetry, And Mild Syndactyly	Acrocephalosyndactyly Type 3
Acrocephalosyndactyly, Type Iii	Acrocephalosyndactyly Type Iii
Saethre-Chotzen Syndrome With Or Without Eyelid Anomalies	Auralcephalosyndactyly
Acs 3	Acrocephalo-Syndactyly, Type 3
Blepharophimosis,Epicanthus Inversus, And Ptosis 3	Aural Cephalosyndactyly
Kurczynski-Casperson Syndrome	Acrocephalosyndactyly Iii
Dysostosis Craniofacialis With Hypertelorism	Saethre-Chotzen Syndrome, With/Without Eyelid Anomalies
Sakati Syndrome

Non-Syndromic X-Linked Intellectual Disability 63

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

Non-Syndromic X-Linked Intellectual Disability

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

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00201	ACSL3 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	ACSL3	VGNC	VGNC:59535
Macaca mulatta	ACSL3	VGNC	VGNC:69565
Canis familiaris	ACSL3	VGNC	VGNC:37533
Rattus norvegicus	ACSL3	RGD	RGD:70552
Bos taurus	ACSL3	VGNC	VGNC:25565
Mus musculus	ACSL3	MGD	MGI:1921455

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