BBOX1 - gamma-butyrobetaine hydroxylase 1 Gene

Homo sapiens

Also known as BBH; BBOX; G-BBH; gamma-BBH

Gene ID: 8424 | Gene type: protein coding

About BBOX1

Cytogenetic location: 11p14.2 Genomic coordinates (GRCh38): 11:27,040,815-27,127,809 (from NCBI)

This gene has 8 transcripts (splice variants), 209 orthologues and 1 paralogue. Biased expression in kidney (RPKM 100.1), liver (RPKM 20.3) and 3 other tissues.

Summary

This gene encodes gamma butyrobetaine hydroxylase which catalyzes the formation of L-carnitine from gamma-butyrobetaine, the last step in the L-carnitine biosynthetic pathway. Carnitine is essential for the transport of activated fatty acids across the mitochondrial membrane during mitochondrial beta-oxidation. [provided by RefSeq, Jul 2008]

BBOX1 Products(5)

mRNA	Protein	Name
NM_001376258.1	NP_001363187.1	gamma-butyrobetaine dioxygenase
NM_001376259.1	NP_001363188.1	gamma-butyrobetaine dioxygenase
NM_001376260.1	NP_001363189.1	gamma-butyrobetaine dioxygenase
NM_001376261.1	NP_001363190.1	gamma-butyrobetaine dioxygenase
NM_003986.3	NP_003977.1	gamma-butyrobetaine dioxygenase

BBOX1 Protein Structure

DUF971

TauD

0
100
200
300
387 a.a.

Protein Preferred Names

Protein Names

gamma-butyrobetaine dioxygenase

butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1

Recombinant BBOX1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76163	BBOX1 Protein, Human (sf9, His-GST)	O75936 (M1-N387)	≥95%

Related Diseases

Diseases

Alias

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h

Lgmd2h	Limb-Girdle Muscular Dystrophy Due To Trim32 Deficiency
Muscular Dystrophy Hutterite Type	Sarcotubular Myopathy
Limb-Girdle Muscular Dystrophy Type 2h

Erysipeloid

Infection Due To Erysipelothrix Rhusiopathiae

Erysipelothrix Infection

Mulibrey Nanism

MUL	Muscle-Liver-Brain-Eye Nanism
Pericardial Constriction And Growth Failure	Perheentupa Syndrome
Mulibrey Growth Disorder	Mulibrey Nanism Syndrome
Pericardial Constriction With Growth Failure	Nanism Mulibrey

Advanced Sleep Phase Syndrome, Familial, 1

Advanced Sleep Phase Syndrome 1	FASPS1
Familial Advanced Sleep Phase Syndrome 1	Sleep Phase Syndrome, Advanced, Familial, Type 1

Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne

Papa Syndrome	Fra
Familial Recurrent Arthritis	Pyogenic Arthritis, Pyoderma Gangrenosum And Acne
PAPAS	Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pyogenic Arthritis, Pyoderma Gangrenosum, And Severe Cystic Acne	Pyogenic Sterile Arthritis, Pyoderma Gangrenosum And Acne

Bardet-Biedl Syndrome 11

BBS11	Bardet-Biedl Syndrome
Bbs	Bardet-Biedl Syndrome, Type 11

Autosomal Recessive Limb-Girdle Muscular Dystrophy

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive

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-RS01383	BBOX1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	BBOX1	VGNC	VGNC:26432
Canis familiaris	BBOX1	VGNC	VGNC:38393
Felis catus	BBOX1	VGNC	VGNC:69156
Macaca mulatta	BBOX1	VGNC	VGNC:70233
Rattus norvegicus	BBOX1	RGD	RGD:619756
Mus musculus	BBOX1	MGD	MGI:1891372
Others	BBOX1	NCBI

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