OXCT1 - 3-oxoacid CoA-transferase 1 Gene

Homo sapiens

Also known as OXCT; SCOT

Gene ID: 5019 | Gene type: protein coding

About OXCT1

Cytogenetic location: 5p13.1 Genomic coordinates (GRCh38): 5:41,730,065-41,870,425 (from NCBI)

This gene has 8 transcripts (splice variants), 237 orthologues, 1 paralogue and is associated with 3 phenotypes. Broad expression in heart (RPKM 90.1), brain (RPKM 37.8) and 19 other tissues.

Summary

This gene encodes a member of the 3-oxoacid CoA-transferase gene family. The encoded protein is a homodimeric mitochondrial matrix Enzyme that plays a central role in extrahepatic ketone body catabolism by catalyzing the reversible transfer of coenzyme A from succinyl-CoA to acetoacetate. Mutations in this gene are associated with succinyl CoA:3-oxoacid CoA transferase deficiency. [provided by RefSeq, Jul 2008]

OXCT1 Products(6)

mRNA	Protein	Name
NM_000436.4	NP_000427.1	succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial isoform 3 precursor
NM_001364299.2	NP_001351228.1	succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial isoform 1 precursor
NM_001364300.2	NP_001351229.1	succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial isoform 2
NM_001364301.2	NP_001351230.1	succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial isoform 4 precursor
NM_001364302.2	NP_001351231.1	succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial isoform 5 precursor
NM_001364303.2	NP_001351232.1	succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial isoform 6

OXCT1 Protein Structure

CoA_trans

0
100
200
300
400
520 a.a.

Protein Preferred Names

Protein Names

succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial

3-oxoacid CoA transferase

Related Diseases

Diseases

Alias

Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency

Scot Deficiency	Succinyl-Coa:3-Oxoacid Coa Transferase Deficiency
Succinyl-Coa Acetoacetate Transferase Deficiency	Ketoacidosis Due To Scot Deficiency
Succinyl-Coa:Acetoacetate Transferase Deficiency	SCOTD
Succinyl-Coa:3-Ketoacid Coa-Transferase Deficiency	Succinyl Coa:3-Oxoacid Coa Transferase Deficiency
3-Oxoacid Coa Transferase Deficiency	Succinyl-Coa:3-Ketoacid Coa Transferase Deficiency
Succinyl-Coa 3-Oxoacid Transferase Deficiency	Oxct1 Deficiency
Succinyl-Coa:3-Ketoacid-Coa Transferase Deficiency	Succinyl-Coa-3-Ketoacid-Coa Transferase Deficiency
Deficiency Of 3-Oxoacid Coa-Transferase

Monocarboxylate Transporter 1 Deficiency

Ketoacidosis Due To Monocarboxylate Transporter-1 Deficiency	MCT1D
Ketosis

Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures

OPA10	Optic Atrophy 10 With Or Without Ataxia, Intellectual Disability, And Seizures
Optic Atrophy 10	Atrophy, Optic, Type 10, With/Without Ataxia, Mental Retardation, And Seizures

Cardiomyopathy, Dilated, 1gg

Dilated Cardiomyopathy 1gg	CMD1GG
Cardiomyopathy, Dilated 1gg	Cardiomyopathy, Dilated, Type 1gg

Gastric Antral Vascular Ectasia

Watermelon Stomach

Gave

Nonobstructive Coronary Artery Disease

Non-Cad

Non-Obstructive Coronary Artery Disease

Diffuse Scleroderma

Diffuse Systemic Sclerosis	Systemic Sclerosis, Diffuse
Scleroderma, Diffuse	Systemic Scleroderma
Progressive System Sclerosis

Syndromic X-Linked Intellectual Disability Cabezas Type

Cabezas Syndrome	Syndromic X-Linked Mental Retardation 15
Mental Retardation, X-Linked, Syndromic 15	Mrss
Mrxs15	Mrxsc
X-Linked Mental Retardation With Short Stature	X-Linked Mental Retardation With Short Stature, Hypogonadism, And Abnormal Gait
Mental Retardation, X-Linked, With Short Stature	Mental Retardation, X-Linked, With Short Stature, Hypogonadism, And Abnormal Gait

Limited Scleroderma

Limited Cutaneous Systemic Sclerosis	Limited Systemic Sclerosis
Systemic Sclerosis Sine Scleroderma	Crest Syndrome
Limited Cutaneous Systemic Scleroderma	Scleroderma, Limited
Systemic Sclerosis, Limited	Progressive Systemic Sclerosis Sine Scleroderma
Scleroderma, Sine	Crest - [Calcinosis, Raynaud Phenomenon, Oesophageal Dysmotility, Sclerodactyly, And Telangiectasia] Syndrome
Crst - [Calcinosis, Raynaud Phenomenon, Sclerodactyly And Telangiectasia] Syndrome

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-RS09886	OXCT1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	OXCT1	VGNC	VGNC:32508
Canis familiaris	OXCT1	VGNC	VGNC:51916
Mus musculus	OXCT1	MGD	MGI:1914291
Macaca mulatta	OXCT1	VGNC	VGNC:84468
Felis catus	OXCT1	VGNC	VGNC:68666
Rattus norvegicus	OXCT1	RGD	RGD:1584008
Others	OXCT1	NCBI

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