ZNF408 gene

zinc finger protein 408

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

From NCBI Gene:

The protein encoded by this gene contains ten tandem zinc fingers and an N-terminal SET domain, so it is likely a DNA binding protein that interacts with other proteins. In adults, the encoded protein is expressed most highly in retina. Consequently, defects in this gene have been associated with familial exudative vitreoretinopathy (FEVR) and retinitis pigmentosa (RP). [provided by RefSeq, Dec 2016]

From UniProt:

May be involved in transcriptional regulation.

From NCBI Gene:

  • Exudative vitreoretinopathy 6
  • Retinitis pigmentosa 72

From UniProt:

Vitreoretinopathy, exudative 6 (EVR6): A form of exudative vitreoretinopathy, a disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery. [MIM:616468]

Retinitis pigmentosa 72 (RP72): A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. [MIM:616469]

Cytogenetic Location: 11p11.2, which is the short (p) arm of chromosome 11 at position 11.2

Molecular Location: base pairs 46,700,767 to 46,705,916 on chromosome 11 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 11p11.2, which is the short (p) arm of chromosome 11 at position 11.2
  • EVR6
  • RP72