SOX30 Chromosome 5
SRY-box transcription factor 30
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What This Gene Does
This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein acts as a transcriptional regulator when present in a complex with other proteins. It can activate p53 transcription to promote tumor cell apoptosis in lung cancer. The protein may be involved in the differentiation of developing male germ cells. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 5. [provided by RefSeq, Apr 2015]
Gene Info
Gene Group
SRY-box transcription factors
Locus Type
gene with protein product
Location
5q33.3
Ensembl
ENSG00000039600
Associated Conditions (1)
Male infertility
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS377581367 | Health Risk | Likely pathogenic | Male infertility, Male infertility |