WDR36 gene

WD repeat domain 36

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

From NCBI Gene:

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Mutations in this gene have been associated with adult-onset primary open-angle glaucoma (POAG). [provided by RefSeq, Jul 2008]

From UniProt:

Involved in the nucleolar processing of SSU 18S rRNA. Involved in T-cell activation and highly coregulated with IL2.

From NCBI Gene:

  • Glaucoma 1, open angle, G

From UniProt:

Glaucoma 1, open angle, G (GLC1G): A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. [MIM:609887]

Cytogenetic Location: 5q22.1, which is the long (q) arm of chromosome 5 at position 22.1

Molecular Location: base pairs 111,092,172 to 111,130,502 on chromosome 5 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 5q22.1, which is the long (q) arm of chromosome 5 at position 22.1
  • GLC1G
  • TA-WDRP
  • TAWDRP
  • UTP21