TIMM50 gene: translocase of inner mitochondrial membrane 50

Curated reports relevant to this gene

No Genome Test report reads TIMM50 yet. The test sequences your whole genome, so your data includes it all the same.

How TIMM50 is laid out

Coding sequence
Untranslated region
Intron
Direction of transcription
Known disease-causing sites
Stretches short reads find hard

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 5 kb of the gene's 12.9 kb; 1,062 of those bases code for the protein.

How a genome test reads TIMM50

6

positions in TIMM50 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 12.9 kb of TIMM50, introns included, not only the 5 kb of exons.

Traits linked to TIMM50

The Human Phenotype Ontology lists these as features of the rare conditions TIMM50 can cause. Each trait's page lists the other genes linked to it.

Abnormality of the nervous system

Show 14 more traits

Abnormality of the musculoskeletal system

Abnormality of head or neck

Laboratory abnormality

Abnormality of the eye

Growth abnormality

External links

Gene records

Transcript

Protein

Variants

Clinical

Where this comes from

HGNC: the gene's symbol, name, other symbols and location.
MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). TIMM50 gene: translocase of inner mitochondrial membrane 50. Retrieved 17 October 2026, from https://dantelabs.com/genes/timm50

Vancouver

Dante Labs. TIMM50 gene: translocase of inner mitochondrial membrane 50 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/timm50