Gene: TBPL1

Alternate names for this Gene: MGC:8389|MGC:9620|STUD|TLF|TLP|TRF2

Gene Summary: This gene encodes a member of the TATA box-binding protein family. TATA box-binding proteins play a critical role in transcription by RNA polymerase II as components of the transcription factor IID (TFIID) complex. The encoded protein does not bind to the TATA box and initiates transcription from TATA-less promoters. This gene plays a critical role in spermatogenesis, and single nucleotide polymorphisms in this gene may be associated with male infertility. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 3.

Gene is located in Chromosome: 6

Location in Chromosome : 6q23.2

Description of this Gene: TATA-box binding protein like 1

Type of Gene: protein-coding

rs2327436 in TBPL1 gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.