TAF15 Chromosome 17
TATA-box binding protein associated factor 15
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What This Gene Does
This gene encodes a member of the TET family of RNA-binding proteins. The encoded protein plays a role in RNA polymerase II gene transcription as a component of a distinct subset of multi-subunit transcription initiation factor TFIID complexes. Translocations involving this gene play a role in acute leukemia and extraskeletal myxoid chondrosarcoma, and mutations in this gene may play a role in amyotrophic lateral sclerosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
Gene Info
Gene Group
"Zinc fingers RANBP2-type|RNA binding motif containing|FET protein family"
Locus Type
gene with protein product
Location
17q12
Ensembl
ENSG00000270647
Associated Conditions (1)
TAF15-related disorder
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS749600689 | Health Risk | Conflicting classifications of pathogenicity | TAF15-related disorder, TAF15-related disorder |
| RS756351856 | Health Risk | Conflicting classifications of pathogenicity | — |