BCO2 - beta-carotene oxygenase 2 Gene

Homo sapiens

Also known as BCDO2; B-DIOX-II

Gene ID: 83875 | Gene type: protein coding

About BCO2

Cytogenetic location: 11q23.1 Genomic coordinates (GRCh38): 11:112,175,512-112,218,946 (from NCBI)

This gene has 19 transcripts (splice variants), 338 orthologues and 2 paralogues. Broad expression in heart (RPKM 9.3), liver (RPKM 6.3) and 14 other tissues.

Summary

This gene encodes an Enzyme which oxidizes carotenoids such as beta-carotene during the biosynthesis of vitamin A. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

BCO2 Products(5)

mRNA	Protein	Name
NM_001037290.4	NP_001032367.3	carotenoid-cleaving dioxygenase, mitochondrial isoform b
NM_001256397.3	NP_001243326.2	carotenoid-cleaving dioxygenase, mitochondrial isoform c
NM_001256398.3	NP_001243327.2	carotenoid-cleaving dioxygenase, mitochondrial isoform d
NM_001256400.3	NP_001243329.2	carotenoid-cleaving dioxygenase, mitochondrial isoform e
NM_031938.7	NP_114144.5	carotenoid-cleaving dioxygenase, mitochondrial isoform a

BCO2 Protein Structure

RPE65

0
100
200
300
400
500
579 a.a.

Protein Preferred Names

Protein Names

carotenoid-cleaving dioxygenase, mitochondrial

b,b-carotene-9',10'-dioxygenase

Related Diseases

Diseases

Alias

Microphthalmia, Syndromic 9

Matthew-Wood Syndrome	Spear Syndrome
Anophthalmia/Microphthalmia And Pulmonary Hypoplasia	Microphthalmia, Isolated, With Coloboma 8
MCOPS9	Anophthalmia, Clinical, With Mild Facial Dysmorphism And Variable Malformations Of The Lung, Heart, And Diaphragm
Pulmonary Hypoplasia-Diaphragmatic Hernia-Anophthalmia-Cardiac Defect	Pdac
Pulmonary Agenesis, Microphthalmia, And Diaphragmatic Defect	Pmd
Syndromic Microphthalmia 9	Anophthalmia-Pulmonary Hypoplasia Syndrome
Clinical Anophthalmia Mild Facial Dysmorphism Lung Heart And Diaphragm Malformations	Pulmonary Agenesis Microphthalmi And Diaphragmatic Defect
Microphthalmia Syndromic 9	Matthew Wood Syndrome
Pdac Syndrome	Pulmonary Hypoplasia-Diaphragmatic Hernia-Anophthalmia-Cardiac Defect Syndrome
Microphthalmia, Isolated, With Coloboma, 8	MCOPCB8
Isolated Colobomatous Microphthalmia 8	Microphthalmia, Syndromic, 9
Anophthalmia With Pulmonary Hypoplasia	Microphthalmia Syndromic, Type 9
Anophthalmia And Pulmonary Hypoplasia

Macular Degeneration, Age-Related, 1

Macular Degeneration	Age-Related Macular Degeneration
Macular Degeneration, Age-Related	Age Related Macular Degeneration
Age Related Macular Degeneration 1	ARMD1
Senile Macular Degeneration	Maculopathy, Age-Related, 1
Macular Degeneration, Age-Related, Reduced Risk Of	Age Related Maculopathy 1
Age Related Maculopathies	Age Related Maculopathy
Senile Macular Retinal Degeneration	Macular Degeneration Of Retina
Age-Related Maculopathy	Amd
Armd	Age-Related Maculopathy, Susceptibility To
Maculopathy Age-Related	Macular Degeneration, Age-Related, 1, Susceptibility To
Maculopathy, Age-Related	Macular Degeneration, Age-Related, Type 1
Macular Degeneration, Age-Related, 2

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01447	BCO2 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	BCO2	VGNC	VGNC:26454
Felis catus	BCO2	VGNC	VGNC:60092
Macaca mulatta	BCO2	VGNC	VGNC:70097
Canis familiaris	BCO2	VGNC	VGNC:38418
Rattus norvegicus	BCO2	RGD	RGD:1309022
Mus musculus	BCO2	MGD	MGI:2177469