BOLA2B

Chr 16

bolA family member 2B

NCBI Gene: 654483 ENSG00000169627 UniProt: Q9H3K6

BOLA2B encodes a cytosolic iron-sulfur cluster assembly factor that facilitates insertion of [2Fe-2S] clusters into cytosolic proteins, working together with the monothiol glutaredoxin GLRX3. This gene is located within a segmental duplication on chromosome 16 and is identical to BOLA2, but no specific human diseases have been established for BOLA2B mutations in the provided data. The inheritance pattern and clinical phenotypes associated with BOLA2B variants remain to be determined.

ResearchSummary from RefSeq, UniProt

This gene is located within a region of a segmental duplication on chromosome 16 and is identical to BOLA2 (bolA family member 2). The product of this gene belongs to a family of proteins that are widely conserved and may be involved in iron maturation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)