| Gene Symbol | SOX5 |
| Entrez Gene ID | 6660 |
| Full Name | SRY-box 5 |
| Synonyms | L-SOX5,L-SOX5B,L-SOX5F,LAMSHF |
| General protein information |
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| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| Summary | 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 may act as a transcriptional regulator after forming a protein complex with other proteins. The encoded protein may play a role in chondrogenesis. A pseudogene of this gene is located on chromosome 8. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. |
| Disorder MIM: | |
| Disorder Html: | Lamb-Shaffer syndrome, 616803 (3) |
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