SOX5 gene
SRY-box 5
The information on this page was automatically extracted from online scientific databases.
From NCBI Gene:
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]
From UniProt:
Binds specifically to the DNA sequence 5'-AACAAT-3'. Activates transcription of COL2A1 and AGC1 in vitro.
Related Information
From NCBI Gene:
- Lamb-shaffer syndrome
From UniProt:
Lamb-Shaffer syndrome (LAMSHF): An autosomal dominant, neurodevelopmental disorder characterized by global developmental delay, intellectual disability, language and motor impairment, and distinct facial features. Additional variable skeletal abnormalities may also be present. [MIM:616803]
Related Information
Cytogenetic Location: 12p12.1, which is the short (p) arm of chromosome 12 at position 12.1
Molecular Location: base pairs 23,529,499 to 24,562,701 on chromosome 12 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Related Information
- L-SOX5
- L-SOX5B
- L-SOX5F
- LAMSHF