TAF4B Chromosome 18

TATA-box binding protein associated factor 4b

1 variant 1 Health Risk

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What This Gene Does

TATA binding protein (TBP) and TBP-associated factors (TAFs) participate in the formation of the TFIID protein complex, which is involved in initiation of transcription of genes by RNA polymerase II. This gene encodes a cell type-specific TAF that may be responsible for mediating transcription by a subset of activators in B cells. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]

Associated Conditions (1)

Spermatogenic failure 13

Key Variants

RS587777427

Pathogenic

Spermatogenic failure 13, Spermatogenic failure 13

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS587777427	Health Risk	Pathogenic	Spermatogenic failure 13, Spermatogenic failure 13