2. Gene
  3. ACSF3 - acyl-CoA synthetase family member 3 Gene

ACSF3 - acyl-CoA synthetase family member 3 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens
Gene ID: 197322 | Gene type: protein coding

About ACSF3

Cytogenetic location: 16q24.3 Genomic coordinates (GRCh38): 16:89,093,852-89,156,233 (from NCBI)

This gene has 19 transcripts (splice variants), 207 orthologues, 13 paralogues and is associated with 2 phenotypes. Ubiquitous expression in duodenum (RPKM 1.5), lymph node (RPKM 1.5) and 25 other tissues.

Summary

This gene encodes a member of the acyl-CoA synthetase family of enzymes that activate fatty acids by catalyzing the formation of a thioester linkage between fatty acids and coenzyme A. The encoded protein is localized to mitochondria, has high specificity for malonate and methylmalonate and possesses malonyl-CoA synthetase activity. Mutations in this gene are a cause of combined malonic and methylmalonic aciduria. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Sep 2013]

ACSF3 Products(4)

mRNA Protein Name
NM_001127214.4 NP_001120686.1 malonate--CoA ligase ACSF3, mitochondrial isoform 1 precursor
NM_001243279.3 NP_001230208.1 malonate--CoA ligase ACSF3, mitochondrial isoform 1 precursor
NM_001284316.2 NP_001271245.1 malonate--CoA ligase ACSF3, mitochondrial isoform 2
NM_174917.5 NP_777577.2 malonate--CoA ligase ACSF3, mitochondrial isoform 1 precursor

ACSF3 Protein Structure

AMP-binding

AMP-binding: AMP-binding enzyme (50 - 479)

AMP-binding_C

AMP-binding_C: AMP-binding enzyme C-terminal domain (488 - 563)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 576 a.a.
Protein Preferred Names Protein Names

malonate--CoA ligase ACSF3, mitochondrial

acyl-CoA synthetase family member 3, mitochondrial

Related Diseases

Diseases Alias
Combined Malonic And Methylmalonic Aciduria

CMAMMA

Combined Malonic And Methylmalonic Acidemia

Aciduria, Combined Malonic And Methylmalonic
Isolated Methylmalonic Acidemia

Isolated Methylmalonic Aciduria

Methylmalonic Acidemia
Methylmalonic Acidemia

Methylmalonic Aciduria

Mma

Acidemia, Methylmalonic

Isolated Methylmalonic Acidemia
Methylmalonic Aciduria, Cbla Type

Methylmalonic Acidemia Cbla Type

Methylmalonic Aciduria Cbla Type

Methylmalonic Acidemia, Cbla Type

Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, Cbla Type

Methylmalonic Aciduria, Vitamin B12-Responsive, Cbla Type

Methylmalonic Aciduria, Vitamin B12-Responsive Due To A Defect In Synthesis Of Adenosylcobalamin Cb1a Type

Vitamin B12-Responsive Methylmalonic Acidemia Type Cbla

Vitamin B12-Responsive Methylmalonic Aciduria Type Cbla

Methylmalonic Aciduria Type Cbla

MMAA

Methylmalonic Aciduria Type A

Vitamin B12 Responsive Methylmalonic Acidemia Type Cbl A

Vitamin B12 Responsive Methylmalonic Aciduria Type Cbl A

Aciduria, Methylmalonic, Cbla Type

Methylmalonic Aciduria Cbla Type
Methylmalonic Aciduria, Cblb Type

Methylmalonic Aciduria Cblb Type

Methylmalonic Acidemia Cblb Type

Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, Cblb Complementation Type

Methylmalonic Acidemia, Cblb Type

Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, Cblb Type

Methylmalonic Aciduria, Vitamin B12-Responsive, Cblb Type

Vitamin B12-Responsive Methylmalonic Acidemia Type Cblb

Vitamin B12-Responsive Methylmalonic Aciduria, Type Cblb

Methylmalonic Aciduria Type Cblb

MMAB

Methylmalonic Aciduria Type B

Vitamin B12 Responsive Methylmalonic Acidemia Type Cbl B

Vitamin B12 Responsive Methylmalonic Aciduria Type Cbl B

Aciduria, Methylmalonic, Cblb Type

Methylmalonic Acidemia

Methylmalonic Aciduria
Organic Acidemia

Organic Aciduria

Disorder Of Organic Acid Metabolism

Organic Acid Metabolism Disorder

Organic Acidemias

Inherited Organic Acidemia

Organic Acidurias

Aciduria Organic
3-Methylcrotonyl-Coa Carboxylase Deficiency

3-Methylcrotonylglycinuria

Mcc Deficiency

Methylcrotonyl-Coa Carboxylase Deficiency

Bmcc Deficiency

3-Mcc Deficiency

3mcc

Mccd

3mcc Deficiency

Isolated 3-Methylcrotonyl-Coa Carboxylase Deficiency

3-Mcc

3-Methylcrotonyl-Coenzyme A Carboxylase Deficiency

Deficiency Of Methylcrotonoyl-Coa Carboxylase

3-Methyl Crotonyl-Coa Carboxylase Deficiency

3-Methylcrotonyl Coa Carboxylase 1 Deficiency
Kbg Syndrome

KBGS

Macrodontia, Mental Retardation, Characteristic Facies, Short Stature, And Skeletal Anomalies

Short Stature, Characteristic Facies, Macrodontia, Intellectual Disability, And Skeletal Anomalies

Short Stature, Characteristic Facies, Macrodontia, Mental Retardation, And Skeletal Anomalies

Short Stature-Characteristic Facies-Mental Retardation-Macrodontia-Skeletal Anomalies Syndrome

Short Stature-Facial And Skeletal Anomalies-Intellectual Disability-Macrodontia Syndrome
Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
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-RS00199 ACSF3 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta ACSF3 VGNC VGNC:82095
Mus musculus ACSF3 MGD MGI:2182591
Felis catus ACSF3 VGNC VGNC:59533
Rattus norvegicus ACSF3 RGD RGD:1586037
Bos taurus ACSF3 VGNC VGNC:25563
Canis familiaris ACSF3 VGNC VGNC:37531