TRIM44
Function
May play a role in the process of differentiation and maturation of neuronal cells (By similarity). May regulate the activity of TRIM17. Is a negative regulator of PAX6 expression (PubMed:26394807).
Involvement in disease
Aniridia 3
AN3
A form of aniridia, a congenital, bilateral, panocular disorder characterized by complete absence of the iris or extreme iris hypoplasia. Aniridia is not just an isolated defect in iris development but it is associated with macular and optic nerve hypoplasia, cataract, corneal changes, nystagmus. Visual acuity is generally low but is unrelated to the degree of iris hypoplasia. Glaucoma is a secondary problem causing additional visual loss over time.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Highly expressed in testis.
Alternative names
DIPB, TRIM44, Tripartite motif-containing protein 44, Protein DIPB