CPT1B - carnitine palmitoyltransferase 1B Gene

Homo sapiens

Also known as CPTI; CPT1M; MCPT1; CPT1-M; CPTI-M; M-CPT1; MCCPT1

Gene ID: 1375 | Gene type: protein coding

About CPT1B

Cytogenetic location: 22q13.33 Genomic coordinates (GRCh38): 22:50,568,861-50,578,612 (from NCBI)

This gene has 13 transcripts (splice variants), 197 orthologues and 6 paralogues. Broad expression in heart (RPKM 59.4), testis (RPKM 39.6) and 20 other tissues.

Summary

The protein encoded by this gene, a member of the carnitine/choline acetyltransferase family, is the rate-controlling Enzyme of the long-chain fatty acid beta-oxidation pathway in muscle mitochondria. This Enzyme is required for the net transport of long-chain fatty acyl-CoAs from the cytoplasm into the mitochondria. Multiple transcript variants encoding different isoforms have been found for this gene, and read-through transcripts are expressed from the upstream locus that include exons from this gene. [provided by RefSeq, Jun 2009]

CPT1B Products(6)

mRNA	Protein	Name
NM_001145134.2	NP_001138606.1	carnitine O-palmitoyltransferase 1, muscle isoform isoform c
NM_001145135.2	NP_001138607.1	carnitine O-palmitoyltransferase 1, muscle isoform isoform a
NM_001145137.2	NP_001138609.1	carnitine O-palmitoyltransferase 1, muscle isoform isoform a
NM_004377.4	NP_004368.1	carnitine O-palmitoyltransferase 1, muscle isoform isoform a
NM_152245.3	NP_689451.1	carnitine O-palmitoyltransferase 1, muscle isoform isoform a
NM_152246.3	NP_689452.1	carnitine O-palmitoyltransferase 1, muscle isoform isoform a

CPT1B Protein Structure

Carn_acyltransf

0
200
400
600
772 a.a.

Protein Preferred Names

Protein Names

carnitine O-palmitoyltransferase 1, muscle isoform

carnitine O-palmitoyltransferase 1B

Related Diseases

Diseases

Alias

Carnitine Palmitoyltransferase I Deficiency

Carnitine Palmitoyl Transferase 1a Deficiency	Cpt1a Deficiency
Cpt I Deficiency	Carnitine Palmitoyl Transferase Ia Deficiency
Hepatic Carnitine Palmitoyl Transferase 1 Deficiency	Hepatic Carnitine Palmitoyl Transferase I Deficiency
L-Cpt1 Deficiency	Carnitine Palmitoyltransferase 1a Deficiency
Carnitine Palmitoyltransferase Ia Deficiency	Cpt Deficiency, Hepatic, Type I
Cpt Deficiency, Hepatic, Type Ia	Hepatic Carnitine Palmitoyltransferase 1 Deficiency
L-Cpti Deficiency	Hepatic Cpt Deficiency Type I
Hepatic Cpt1	L-Cpt 1 Deficiency
Cpt 1a Deficiency	Liver Form Of Carnitine Palmitoyltransferase Deficiency
CPT1AD	Cpt-I Deficiency

Narcolepsy

Paroxysmal Sleep	Gelineau Syndrome
Narcoleptic Syndrome	Narcolepsy-Cataplexy Syndrome
Cataplexy And Narcolepsy	Narcolepsy, Without Cataplexy
Gelineau'S Syndrome	Narcolepsy With Or Without Cataplexy
Narcolepsy Nos

Body Mass Index Quantitative Trait Locus 11

OBESITY	Obesity, Susceptibility To
Leanness, Inherited	Obesity, Susceptibility To, Bmiq11
Obesity, Mild, Early-Onset	Obesity, Association With
Obesity, Early-Onset, Susceptibility To	Obesity, Severe
Obesity, Severe, And Type Ii Diabetes	Obesity, Late-Onset
Obesity , Susceptibility To	BMIQ11
Obesity Bmiq11	Obesity, Early-Onset
Simple Obesity Nos	Excess Fat
Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified	Adiposis

Multiple Acyl-Coa Dehydrogenase Deficiency

MADD	Ethylmalonic-Adipicaciduria
Ema	Glutaric Acidemia Iia
Glutaric Acidemia Iib	Ga Ii
Glutaric Acidemia Iic	Glutaric Acidemia Type 2
Glutaric Acidemia Ii	Glutaric Aciduria Ii
Electron Transfer Flavoprotein Deficiency	Glutaric Aciduria Type 2
Mad Deficiency	Glutaric Acidemia Type Ii
Glutaric Aciduria 2	Etfa Deficiency
Etfb Deficiency	Etfdh Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency	Ga2
Electron Transfer Flavoprotein Ubiquinone Oxidoreductase Deficiency	Electron Transfer Flavoprotein Dehydrogenase Deficiency
Ga 2	Glutaric Acidemia 2
Glutaric Acidemia, Type 2	Glutaric Aciduria, Type 2
Mad	Multiple Fad Dehydrogenase Deficiency
Ethylmalonic Adipic Aciduria	Glutaricaciduria Ii
Glutaric Aciduria 2a	GA2A
Gaiia	Glutaricaciduria Iia
Glutaric Aciduria 2b	GA2B
Gaiib	Glutaricaciduria Iib
Glutaric Aciduria 2c	GA2C
Gaiic	Glutaricaciduria Iic
Glutaricaciduria, Type Iia	Glutaric Acidemia Type 2a
Glutaric Acidemia Type 2c	Glutaric Aciduria Iia
Glutaric Aciduria Iib	Glutaric Aciduria Iic

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-RS03123	CPT1B Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	CPT1B	VGNC	VGNC:39580
Mus musculus	CPT1B	MGD	MGI:1098297
Felis catus	CPT1B	VGNC	VGNC:61147
Bos taurus	CPT1B	VGNC	VGNC:27677
Macaca mulatta	CPT1B	VGNC	VGNC:71476
Rattus norvegicus	CPT1B	RGD	RGD:2397

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