BLVRA biliverdin reductase A
Gene ID: 644, updated on 2-Nov-2024Gene type: protein coding
Also known as: BVR; BLVR; BVRA; BVRalpha
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- Go to complete Gene record for BLVRA
- Go to Variation Viewer for BLVRA variants
Summary
The protein encoded by this gene belongs to the biliverdin reductase family, members of which catalyze the conversion of biliverdin to bilirubin in the presence of NADPH or NADH. Mutations in this gene are associated with hyperbiliverdinemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2011]
Associated conditions
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Description | Tests |
---|---|
Hyperbiliverdinemia | See labs |
Genomic context
- Location:
- 7p13
- Sequence:
- Chromosome: 7; NC_000007.14 (43758122..43807342)
- Total number of exons:
- 12
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for BLVRA variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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