rs757075712

This is a variant in the TFAM gene that changes a proline to an leucine.

▶

ClinVar annotation

Pathogenic★☆☆☆
2 submitters1 publication

Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) (MTDPS15)

View on ClinVar →

About TFAM

This gene encodes a key mitochondrial transcription factor containing two high mobility group motifs. The encoded protein also functions in mitochondrial DNA replication and repair. Sequence polymorphisms in this gene are associated with Alzheimer's and Parkinson's diseases. There are pseudogenes for this gene on chromosomes 6, 7, and 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

View all TFAM variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…