• chromosome
  • Mutations in the gene OCLN on chromosome 5q13.2, which is thought to cause band-like calcification in the brain, have been discovered in affected individuals and categorized as BLCPMG which often associated with AGS. (wikipedia.org)
  • Homozygosity
  • The appaloosa coat spotting pattern in horses is caused by a single incomplete dominant gene ( LP ). Homozygosity for LP ( LP/LP ) is directly associated with congenital stationary night blindness (CSNB) in Appaloosa horses. (genetics.org)
  • domain contain
  • Neuropathy target esterase also known as patatin-like phospholipase domain-containing protein 6 (PNPLA6) is a neuropathy target esterase enzyme that in humans is encoded by the PNPLA6 gene. (wikipedia.org)
  • chromosomal
  • Scientifically speaking red-haired has been determined to be caused by a single gene on the sixteenth chromosomal strand of human DNA. (beauty-advices.com)
  • retina
  • 1800-fold change (FC) decrease in TRPM1 gene expression in the retina (FC = −1870.637, P = 0.001) of CSNB-affected ( LP/LP ) horses. (genetics.org)
  • The ABCA4 gene transcribes a large retina-specific protein with two transmembrane domains (TMD), two glycosylated extracellular domains (ECD), and two nucleotide-binding domains (NBD). (wikipedia.org)
  • The ABCA4 protein is almost exclusively expressed in retina localizing in outer segment disk edges of rod photoreceptors. (wikipedia.org)
  • endoplasmic reticulum
  • These genes regulate the synthesis of type I collagen pro-alpha polypeptide chains, proteins involved in type I collagen processing in the endoplasmic reticulum and proteins involved in osteoblast function. (dovepress.com)
  • The protein is anchored to the cytoplasmic face of the endoplasmic reticulum in both neurons and non-neuronal cells. (wikipedia.org)
  • molecular
  • Over the last decade, advances in molecular biology have greatly expanded the association of previously unrecognized gene sequence variants with phenotypes now categorized as OI. (dovepress.com)
  • FPC associates with the primary cilia of epithelial cells and co-localizes with the Pkd2 gene product polycystin-2 (PC2), suggesting that these two proteins may function in a common molecular pathway. (wikipedia.org)
  • These data provide insight into treatment efficacy and broader molecular and developmental abnormalities that contribute to disorders associated with defective protein glycosylation. (biologists.org)
  • cause
  • A disease known as Kwashiorkor and similar protein deficiencies can cause hair to turn red. (beauty-advices.com)
  • Severe malnutrition will cause the hair to change from a darker color to red or possibly blond due to lack of protein and chemical shifts within the body as it tries to stave off starvation. (beauty-advices.com)
  • Mutations in this gene have been cited as being causes for obesity and adrenal insufficiency as well as pigmentation it can cause. (beauty-advices.com)
  • transmembrane protein
  • Flippase is a transmembrane protein that "flips" its conformation to transport materials across a membrane. (wikipedia.org)
  • 4,000 residues), single-pass transmembrane protein that is predicted to be entirely extracellular except for a short ∼190 residue C-terminal tail. (rupress.org)
  • human
  • Prediction of the coding sequences of unidentified human genes. (wikipedia.org)
  • SCY1-like 1 (S. cerevisiae), also known as SCYL1, is a human gene which is highly conserved throughout evolution. (wikipedia.org)
  • espin protein, human at the US National Library of Medicine Medical Subject Headings (MeSH) This article incorporates text from the United States National Library of Medicine, which is in the public domain. (wikipedia.org)
  • pigment
  • The pigment genes of mice were one of the first genetic systems to be explored through breeding and transgenic studies. (genetics.org)
  • primary cilia
  • Sensory functions of primary cilia rely on ciliary-localized membrane proteins, but little is known about how these receptors are targeted to the cilium. (rupress.org)
  • traits
  • In order for evolution to be possible, new information must be added to the gene code that creates new traits and eventually changes the species into a new species. (exchangedlife.com)
  • mediate
  • EF-hand-containing proteins mediate many of these Ca 2+ - and cGMP-dependent functions. (frontiersin.org)
  • In Labradors a highly-active mutated version of the K gene, (KB) is invariant, producing uniform eumelanin distribution independent of the Agouti genotype and leaving differences in MC1R to mediate the sole variability of this signaling pathway. (wikipedia.org)
  • photoreceptor
  • Opsin was localized immunocytochemically and quantified as an index of outer segment membranous material and photoreceptor protein expression. (jneurosci.org)
  • Removal of the RPE resulted in an aberrant assembly of photoreceptor outer segments, loss of fine subcellular ultrastructure in photoreceptors, and a reduction in opsin protein levels when compared with control retinas. (jneurosci.org)
  • This review summarizes aspects of signal transmission at the photoreceptor presynaptic terminals that involve EF-hand-containing Ca 2+ -binding proteins. (frontiersin.org)
  • Previously known as the photoreceptor rim protein RmP or ABCR, the recently proposed ABCA4 structure consists of two transmembrane domains (TMDs), two large glycosylated extracytosolic domains (ECD), and two internal nucleotide binding domains (NBDs). (wikipedia.org)
  • cytoskeleton
  • This small organelle is composed of hundreds of proteins assembled onto a microtubule-based cytoskeleton that projects from the surface of the cell and is surrounded by an extension of the plasma membrane. (rupress.org)
  • Protein 4.2 is a cytoskeleton protein found in red blood cells. (wikipedia.org)
  • patients
  • MPI-CDG patients can be treated with oral mannose supplements, which is converted to mannose-6-phosphate through a minor complementary metabolic pathway, restoring protein glycosylation and ameliorating most symptoms, although liver disease continues to progress. (biologists.org)
  • Patients with defects in this gene develop severe cystic kidney disease along with defects in the lung, pancreas, and liver. (rupress.org)
  • In almost all cases, patients have mutations that inactivate or greatly reduce the activity of both the maternal and paternal copies of one these aforementioned PEX genes. (wikipedia.org)
  • mice
  • Mutations in this protein have been shown to be involved in pale or red colour phenotypes in a range of species, including humans, horses, pigs, cattle, mice, fur seals, mammoths and the Kermode bear, as well as colouration in whiptail lizards. (wikipedia.org)
  • Mice lacking Sh3tc2 have an abnormal organization of the node of Ranvier consistent with the idea that the protein might have a role in myelination or in axon - glial cell interactions. (wikipedia.org)
  • variants
  • Two transcript variants encoding different isoforms have been identified for this gene. (wikipedia.org)
  • Multiple transcript variants encoding different isoforms have been found for this gene. (wikipedia.org)