Entity Details

Primary name BOLA3_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ53S33
EntryNameBOLA3_HUMAN
FullNameBolA-like protein 3
TaxID9606
Evidenceevidence at protein level
Length107
SequenceStatuscomplete
DateCreated2006-07-11
DateModified2021-06-02

Ontological Relatives

GenesBOLA3

GO terms

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GOName
GO:0005739 mitochondrion
GO:0005829 cytosol
GO:0016604 nuclear body

Subcellular Location

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Subcellular Location
Mitochondrion

Domains

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DomainNameCategoryType
IPR002634 BolA proteinFamilyFamily
IPR036065 BolA-like superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
614299 OMIMMultiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia (MMDS2)A severe disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, hyperglycinemia and early death. Some patients show failure to thrive, pulmonary hypertension, hypotonia and irritability. Biochemical features include severe combined deficiency of the 2-oxoacid dehydrogenases, defective lipoic acid synthesis and reduction in activity of mitochondrial respiratory chain complexes. The disease is caused by variants affecting the gene represented in this entry.