Home > Gene Browser > TIMM17B

TIMM17B

Synonyms
DXS9822, JM3, TIM17B
External resources
Summary
This gene encodes a multipass transmembrane protein that forms an integral component of the mitochondrial translocase TIM23 complex. This complex facilitates the transport of mitochondrial proteins from the cytosol across the mitochondrial inner membrane and into the mitochondrion. There is a pseudogene for this gene on chromosome 12. Alternative splicing results in multiple transcript variants.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
1,079
Likely benign
170
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on TIMM17B gene.

Phenotype class
Patients in 3billion (%)

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