Optineurin is a protein that in humans is encoded by the OPTN gene. [5] [6] [7]
Optineurin is a protein that in humans is encoded by the OPTN gene. [5] [6] [7]
This gene encodes the coiled-coil containing protein optineurin. Optineurin may play a role in normal-tension glaucoma and adult-onset primary open angle glaucoma. Optineurin interacts with adenovirus E3-14.7K protein and may utilize tumor necrosis factor-alpha or Fas-ligand pathways to mediate apoptosis, inflammation or vasoconstriction. Optineurin may also function in cellular morphogenesis and membrane trafficking, vesicle trafficking, and transcription activation through its interactions with the RAB8, huntingtin, and transcription factor IIIA proteins. Alternative splicing results in multiple transcript variants encoding the same protein. [7] OPTN is a host intrinsic restriction factor against neuroinvasive HSV-1 infection. [8]
Optineurin has been shown to interact with Huntingtin [9] [10] and RAB8A. [10]
Huntingtin(Htt) is the protein coded for in humans by the HTT gene, also known as the IT15 ("interesting transcript 15") gene. Mutated HTT is the cause of Huntington's disease (HD), and has been investigated for this role and also for its involvement in long-term memory storage.
Cytochrome P450 1B1 is an enzyme that in humans is encoded by the CYP1B1 gene.
Neurotrophin-4 (NT-4), also known as neurotrophin-5 (NT-5), is a protein that in humans is encoded by the NTF4 gene. It is a neurotrophic factor that signals predominantly through the TrkB receptor tyrosine kinase. NT-4 was first discovered and isolated from xenopus and viper in the year 1991 by Finn Hallbook et.al
Neurogenic differentiation 1 (Neurod1), also called β2, is a transcription factor of the NeuroD-type. It is encoded by the human gene NEUROD1.
Myocilin, trabecular meshwork inducible glucocorticoid response (TIGR), also known as MYOC, is a protein which in humans is encoded by the MYOC gene. Mutations in MYOC are a major cause of glaucoma.
Forkhead box C1, also known as FOXC1, is a protein which in humans is encoded by the FOXC1 gene.
Pre-mRNA-processing factor 40 homolog A is a protein that in humans is encoded by the PRPF40A gene.
Ras-related protein Rab-8A is a protein that in humans is encoded by the RAB8A gene.
X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 is a protein in the ciliary transition zone that in humans is encoded by the RPGRIP1 gene. RPGRIP1 is a multi-domain protein containing a coiled-coil domain at the N-terminus, two C2 domains and a C-terminal RPGR-interacting domain (RID). Defects in the gene result in the Leber congenital amaurosis (LCA) syndrome and in the eye disease glaucoma.
Symplekin is a protein that in humans is encoded by the SYMPK gene.
Ubiquitin-conjugating enzyme E2 K is a protein that in humans is encoded by the UBE2K gene.
SET domain containing 2 is an enzyme that in humans is encoded by the SETD2 gene.
WD repeat-containing protein 36 is a protein that in humans is encoded by the WDR36 gene.
Small EDRK-rich factor 2 is a protein that in humans is encoded by the SERF2 gene.
Palmitoyltransferase ZDHHC17 is an enzyme that contains a DHHC domain that in humans is encoded by the ZDHHC17 gene.
Coiled-coil domain-containing protein 113 also known as HSPC065, GC16Pof6842 and GC16P044152, is a protein that in humans is encoded by the CCDC113 gene. The human CCDC113 gene is located on chromosome 16q21 and encodes 5,304 base pairs of mRNA and 377 amino acids.
Pre-mRNA-processing factor 40 homolog B is a protein that in humans that is encoded by the PRPF40B gene.
PLEKHA7 is an adherens junction (AJ) protein, involved in the junction's integrity and stability.
Primary juvenile glaucoma is a subtype of primary congenital glaucoma that develops due to ocular hypertension and is diagnosed between three years of age and early adulthood. It is caused due to abnormalities in the anterior chamber angle development that obstruct aqueous outflow in the absence of systemic anomalies or other ocular malformation.
Ghanshyam Swarup is an Indian molecular biologist, a J. C. Bose National Fellow and the head of the Ghanshyam Swarup Research Group of the Centre for Cellular and Molecular Biology. He is known for his studies on glaucoma and the discovery of protein tyrosine phosphatase, a new protein influencing the regulation of cell proliferation. Swarup is an elected fellow of the Indian Academy of Sciences, the Indian National Science Academy and the National Academy of Sciences, India. The Council of Scientific and Industrial Research, the apex agency of the Government of India for scientific research, awarded him the Shanti Swarup Bhatnagar Prize for Science and Technology, one of the highest Indian science awards, in 1996, for his contributions to biological sciences.