SOX5 gene

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.

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]

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 108, GRCh38.p7) (NCBI)

• L-SOX5
• L-SOX5B
• L-SOX5F
• LAMSHF