ZNF469 | |||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | ZNF469 , BCS, BCS1, zinc finger protein 469, Zfp469 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 612078 MGI: 2684868 HomoloGene: 18937 GeneCards: ZNF469 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
|
Zinc finger protein 469 is a protein that in humans is encoded by the ZNF469 gene. [5]
This gene encodes a zinc-finger protein. Low-percent homology to certain collagens suggests that it may function as a transcription factor or extra-nuclear regulator factor for the synthesis or organization of collagen fibers. Mutations in this gene cause brittle cornea syndrome. [5]
Mutations in ZNF469 are associated to keratoconus. [6] as well as a type of Ehlers-Danlos syndrome called brittle cornea syndrome.
Keratin 12 is a protein that in humans is encoded by the KRT12 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.
Transforming growth factor, beta-induced, 68kDa, also known as TGFBI, is a protein which in humans is encoded by the TGFBI gene, locus 5q31.
Carbohydrate sulfotransferase 6 is an enzyme that in humans is encoded by the CHST6 gene.
Crumbs homolog 1 is a protein that in humans is encoded by the CRB1 gene.
Kinesin-like protein KIF21A is a protein that in humans is encoded by the KIF21A gene.
Keratocan (KTN) also known as keratan sulfate proteoglycan keratocan, is a protein that in humans is encoded by the KERA gene.
Collagen alpha-2(VIII) chain is a protein that in humans is encoded by the COL8A2 gene. Mutations of the gene are linked to posterior polymorphous dystrophy type 2.
Cyclic nucleotide gated channel beta 3, also known as CNGB3, is a human gene encoding an ion channel protein.
Collagen alpha-1(VIII) chain is a protein that in humans is encoded by the COL8A1 gene.
Bardet–Biedl syndrome 1 protein is a protein that in humans is encoded by the BBS1 gene. BBS1 is part of the BBSome complex, which required for ciliogenesis. Mutations in this gene have been observed in patients with the major form of Bardet–Biedl syndrome.
Sodium bicarbonate transporter-like protein 11 is a protein that in humans is encoded by the SLC4A11 gene.
Heat shock factor protein 4 is a protein that in humans is encoded by the HSF4 gene.
Visual system homeobox 1 is a protein that in humans is encoded by the VSX1 gene.
Nance-Horan syndrome protein is a protein that in humans is encoded by the NHS gene.
Congenital stromal corneal dystrophy (CSCD) is an extremely rare, autosomal dominant form of corneal dystrophy. Only 4 families have been reported to have the disease by 2009. The main features of the disease are numerous opaque flaky or feathery areas of clouding in the stroma that multiply with age and eventually preclude visibility of the endothelium. Strabismus or primary open angle glaucoma was noted in some of the patients. Thickness of the cornea stays the same, Descemet's membrane and endothelium are relatively unaffected, but the fibrils of collagen that constitute stromal lamellae are reduced in diameter and lamellae themselves are packed significantly more tightly.
Coiled-coil and C2 domain-containing protein 2A that in humans is encoded by the CC2D2A gene.
ADP-ribosylation factor-like protein 13B (ARL13B), also known as ADP-ribosylation factor-like protein 2-like 1, is a protein that in humans is encoded by the ARL13B gene.
Knobloch syndrome is a rare genetic disorder presenting severe eyesight problems and often a defect in the skull. It was named after the ophthalmologist William Hunter Knobloch (1926–2005), who first described the syndrome in 1971. A usual occurrence is a degeneration of the vitreous humour and the retina, two components of the eye. This breakdown often results in the separation of the retina from the eye, called retinal detachment, which can be recurrent. Extreme myopia (near-sightedness) is a common feature. The limited evidence available from electroretinography suggests that a cone-rod pattern of dysfunction is also a feature.
Solute carrier family 16 member 12 is a protein that in humans is encoded by the SLC16A12 gene.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.