BCO1 - beta-carotene oxygenase 1 Gene

Homo sapiens

Also known as BCO; BCDO; BCMO; BCDO1; BCMO1

Gene ID: 53630 | Gene type: protein coding

About BCO1

Cytogenetic location: 16q23.2 Genomic coordinates (GRCh38): 16:81,238,689-81,291,142 (from NCBI)

This gene has 3 transcripts (splice variants), 195 orthologues, 2 paralogues and is associated with 2 phenotypes. Biased expression in small intestine (RPKM 7.4), duodenum (RPKM 3.9) and 4 other tissues.

Summary

Vitamin A metabolism is important for vital processes such as vision, embryonic development, cell differentiation, and membrane and skin protection. The protein encoded by this gene is a key Enzyme in beta-carotene metabolism to vitamin A. It catalyzes the oxidative cleavage of beta,beta-carotene into two retinal molecules. [provided by RefSeq, Jul 2008]

BCO1 Products(1)

mRNA	Protein	Name
NM_017429.3	NP_059125.2	beta,beta-carotene 15,15'-dioxygenase

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables beta-carotene 15,15'-dioxygenase activity	IDA IDA: Inferred from direct assay	11401432	GOA
enables beta-carotene 15,15'-dioxygenase activity	IMP IMP: Inferred from mutant phenotype	17951468	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in carotene catabolic process	IDA IDA: Inferred from direct assay	11401432	GOA
involved in carotene catabolic process	IMP IMP: Inferred from mutant phenotype	17951468	GOA
involved in retinal metabolic process	IDA IDA: Inferred from direct assay	11401432	GOA
involved in retinal metabolic process	IMP IMP: Inferred from mutant phenotype	17951468	GOA
involved in retinoid metabolic process	IDA IDA: Inferred from direct assay	11401432	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BCO1 Protein Structure

RPE65

0
100
200
300
400
500
547 a.a.

Protein Preferred Names

Protein Names

beta,beta-carotene 15,15'-dioxygenase

beta,beta-carotene 15,15'-monooxygenase

Related Diseases

Diseases

Alias

Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant

HCVAD	Hypercarotenemia And Hypovitaminosis A
Vitamin A Deficiency

Hereditary Hypercarotenemia And Vitamin A Deficiency

Carotenemia

Hypercarotinemia

Hypervitaminosis A

Hypervitaminosis A, Susceptibility To

Hyperalimentation Of Vitamin A

Xerophthalmia

Conjunctival Xerosis

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-RS01446	BCO1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	BCO1	VGNC	VGNC:38417
Felis catus	BCO1	VGNC	VGNC:60091
Macaca mulatta	BCO1	VGNC	VGNC:99488
Rattus norvegicus	BCO1	RGD	RGD:70981
Mus musculus	BCO1	MGD	MGI:1926923
Bos taurus	BCO1	VGNC	VGNC:26453

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