USF1 Chromosome 1

Upstream transcription factor 1

2 variants 2 Health Risk

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What This Gene Does

This gene encodes a member of the basic helix-loop-helix leucine zipper family, and can function as a cellular transcription factor. The encoded protein can activate transcription through pyrimidine-rich initiator (Inr) elements and E-box motifs. This gene has been linked to familial combined hyperlipidemia (FCHL). Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been defined on chromosome 21. [provided by RefSeq, Feb 2013]

Gene Info

Gene Group

Basic helix-loop-helix proteins

Locus Type

gene with protein product

Location

1q23.3

Ensembl

ENSG00000158773

Associated Conditions (3)

Hyperlipidemia

familial combined

susceptibility to

Key Variants

RS2073658

risk factor

Hyperlipidemia, familial combined, susceptibility to

Health Risk

RS3737787

risk factor

Hyperlipidemia, familial combined, susceptibility to

Health Risk

All Variants (2)

RSID	Category	Clinical Significance	Conditions
RS2073658	Health Risk	risk factor	Hyperlipidemia, familial combined, susceptibility to
RS3737787	Health Risk	risk factor	Hyperlipidemia, familial combined, susceptibility to