1. Gene
  2. BCO1 - beta-carotene oxygenase 1 Gene

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

BCO1 Protein Structure

RPE65

RPE65: Retinal pigment epithelial membrane protein (5 - 519)

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  • 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

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