SIX6 notes

Automated deep research was unavailable for this session (falcon 402, OpenAI 401); no
-deep-research-<provider>.md file was generated. Notes from cached publications and UniProt.

Molecular function

• Strong tissue-specific repressor with Dach corepressors (mouse):
  PMID:12130660
• Binds Groucho/TLE1 and AES (SIX6 was the two-hybrid bait): PMID:12441302.
• Binds the Shh SBE2 enhancer directly in EMSA PMID:18836447.
• HT-SELEX profiled PMID:28473536.

Biological roles / disease

• Retinal and pituitary progenitor proliferation PMID:12130660.
• Eye field specification with Six3 PMID:12441302.
• 14q22-q23 deletions with SIX6 hemizygosity: anophthalmia + pituitary anomalies PMID:10512683; but no SIX6
  point mutations found in 173 MAC patients PMID:15505031. Homozygous truncation -> complex microphthalmia (ODRMD) [PMID:23167593; abstract unavailable].
• POAG / cup-disc ratio association; zebrafish six6a knockdown reduces optic nerve volume; Asn141His and Leu205Arg hypomorphic PMID:24875647.

Review decisions

• NEW: GO:0001227 (ISS from mouse PMID:12130660), GO:0001222 (IPI PMID:12441302).
• Visual perception REMOVE (IEA) / over-annotated (TAS). Animal organ morphogenesis -> retina development in camera-type eye.
• Module annoton GO:0000981 in eye development is consistent; SIX6 is better described as a repressor.