OCLN gene

occludin

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

From NCBI Gene:

This gene encodes an integral membrane protein that is required for cytokine-induced regulation of the tight junction paracellular permeability barrier. Mutations in this gene are thought to be a cause of band-like calcification with simplified gyration and polymicrogyria (BLC-PMG), an autosomal recessive neurologic disorder that is also known as pseudo-TORCH syndrome. Alternative splicing results in multiple transcript variants. A related pseudogene is present 1.5 Mb downstream on the q arm of chromosome 5. [provided by RefSeq, Apr 2011]

From UniProt:

May play a role in the formation and regulation of the tight junction (TJ) paracellular permeability barrier. It is able to induce adhesion when expressed in cells lacking tight junctions.

From NCBI Gene:

  • Band-like calcification with simplified gyration and polymicrogyria

From UniProt:

Band-like calcification with simplified gyration and polymicrogyria (BLCPMG): A neurologic disorder with characteristic clinical and neuroradiologic features that mimic intrauterine TORCH infection in the absence of evidence of infection. Affected individuals have congenital microcephaly, intracranial calcifications, and severe developmental delay. [MIM:251290]

Cytogenetic Location: 5q13.1, which is the long (q) arm of chromosome 5 at position 13.1

Molecular Location: base pairs 69,492,292 to 69,558,104 on chromosome 5 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 5q13.1, which is the long (q) arm of chromosome 5 at position 13.1
  • BLCPMG
  • PPP1R115