PTEN

Synonym(s): MMAC1, TEP1, PTEN1, BZS, MHAM

Locus: 10q23

Protein: Phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN

Disorder(s):

• Bannayan-Riley-Ruvalcaba Syndrome
• Macrocephaly/Autism Syndrome
• VACTERL Association with Hydrocephalus
• Cowden Syndrome
• PTEN Hamartoma Tumor Syndrome (PHTS)