TRIM44 gene

tripartite motif containing 44

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, namely a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. [provided by RefSeq, Jul 2008]

From UniProt:

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).

From NCBI Gene:

  • Aniridia 3

From UniProt:

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. [MIM:617142]

Cytogenetic Location: 11p13, which is the short (p) arm of chromosome 11 at position 13

Molecular Location: base pairs 35,662,692 to 35,811,053 on chromosome 11 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 11p13, which is the short (p) arm of chromosome 11 at position 13
  • AN3
  • DIPB
  • HSA249128
  • MC7