Family with sequence similarity 111 member A is a protein that in humans is encoded by the FAM111A gene. [5]
Family with sequence similarity 111 member A is a protein that in humans is encoded by the FAM111A gene. [5]
The protein encoded by this gene is cell-cycle regulated, and has nuclear localization. The C-terminal half of the protein shares homology with trypsin-like peptidases and it contains a PCNA-interacting peptide (PIP) box that is necessary for its co-localization with proliferating cell nuclear antigen (PCNA). Reduced expression of this gene resulted in DNA replication defects, consistent with the demonstrated role for this gene in Simian Virus 40 (SV40) viral replication. Monoallelic variants in this gene have been associated with dominantly inherited Kenny-Caffey syndrome (KCS; MIM 127000 [6] ) and the more severe osteocraniostenosis (OCS; MIM 602361 [7] ), both characterized by short stature, hypoparathyroidism, bone development abnormalities, and hypocalcemia. [8] Alternative splicing of the FAM111A transcript results in multiple transcript variants. [provided by RefSeq, Aug 2015].
Cartilage–hair hypoplasia (CHH) is a rare genetic disorder. Symptoms may include short-limbed dwarfism due to skeletal dysplasia, variable level of immunodeficiency, and predisposition to cancer. It was first reported by Victor McKusick in 1965.
Collagen, type II, alpha 1 , also known as COL2A1, is a human gene that provides instructions for the production of the pro-alpha1(II) chain of type II collagen.
Autosomal recessive multiple epiphyseal dysplasia (ARMED), also called epiphyseal dysplasia, multiple, 4 (EDM4), multiple epiphyseal dysplasia with clubfoot or –with bilayered patellae, is an autosomal recessive congenital disorder affecting cartilage and bone development. The disorder has relatively mild signs and symptoms, including joint pain, scoliosis, and malformations of the hands, feet, and knees.
Proliferating cell nuclear antigen (PCNA) is a DNA clamp that acts as a processivity factor for DNA polymerase δ in eukaryotic cells and is essential for replication. PCNA is a homotrimer and achieves its processivity by encircling the DNA, where it acts as a scaffold to recruit proteins involved in DNA replication, DNA repair, chromatin remodeling and epigenetics.
The sulfate transporter is a solute carrier family protein that in humans is encoded by the SLC26A2 gene. SLC26A2 is also called the diastrophic dysplasia sulfate transporter (DTDST), and was first described by Hästbacka et al. in 1994. A defect in sulfate activation described by Superti-Furga in achondrogenesis type 1B was subsequently also found to be caused by genetic variants in the sulfate transporter gene. This sulfate (SO42−) transporter also accepts chloride, hydroxyl ions (OH−), and oxalate as substrates. SLC26A2 is expressed at high levels in developing and mature cartilage, as well as being expressed in lung, placenta, colon, kidney, pancreas and testis.
Nuclear factor NF-kappa-B p100 subunit is a protein that in humans is encoded by the NFKB2 gene.
Flap endonuclease 1 is an enzyme that in humans is encoded by the FEN1 gene.
Replication factor C subunit 1 is a protein that in humans is encoded by the RFC1 gene.
Mitogen-activated protein kinase kinase kinase 8 is an enzyme that in humans is encoded by the MAP3K8 gene.
DNA replication licensing factor MCM5 is a protein that in humans is encoded by the MCM5 gene.
DNA mismatch repair protein, MutS Homolog 3 (MSH3) is a human homologue of the bacterial mismatch repair protein MutS that participates in the mismatch repair (MMR) system. MSH3 typically forms the heterodimer MutSβ with MSH2 in order to correct long insertion/deletion loops and base-base mispairs in microsatellites during DNA synthesis. Deficient capacity for MMR is found in approximately 15% of colorectal cancers, and somatic mutations in the MSH3 gene can be found in nearly 50% of MMR-deficient colorectal cancers.
Tubulin-specific chaperone E is a protein that in humans is encoded by the TBCE gene.
RNA component of mitochondrial RNA processing endoribonuclease, also known as RMRP, is a human gene.
DNA polymerase eta, is a protein that in humans is encoded by the POLH gene.
Ankyrin repeat and KH domain-containing protein 1 is a protein that in humans is encoded by the ANKHD1 gene.
Winchester syndrome is a rare hereditary connective tissue disease described in 1969, of which the main characteristics are short stature, marked contractures of joints, opacities in the cornea, coarse facial features, dissolution of the carpal and tarsal bones, and osteoporosis. Winchester syndrome was once considered to be related to a similar condition, multicentric osteolysis, nodulosis, and arthropathy (MONA). However, it was discovered that the two are caused by mutations found in different genes; however they mostly produce the same phenotype or clinical picture. Appearances resemble rheumatoid arthritis. Increased uronic acid is demonstrated in cultured fibroblasts from the skin and to a lesser degree in both parents. Despite initial tests not showing increased mucopolysaccharide excretion, the disease was regarded as a mucopolysaccharidosis. Winchester syndrome is thought to be inherited as an autosomal recessive trait.
Parastremmatic dwarfism is a rare bone disease that features severe dwarfism, thoracic kyphosis, a distortion and twisting of the limbs, contractures of the large joints, malformations of the vertebrae and pelvis, and incontinence. The disease was first reported in 1970 by Leonard Langer and associates; they used the term parastremmatic from the Greek parastremma, or distorted limbs, to describe it. On X-rays, the disease is distinguished by a "flocky" or lace-like appearance to the bones. The disease is congenital, which means it is apparent at birth. It is caused by a mutation in the TRPV4 gene, located on chromosome 12 in humans. The disease is inherited in an autosomal dominant manner.
Kenny-Caffey syndrome type 2 (KCS2) is an extremely rare autosomal dominant genetic condition characterized by dwarfism, hypermetropia, microphthalmia, and skeletal abnormalities. This subtype of Kenny-Caffey syndrome is caused by a heterozygous mutation in the FAM111A gene (615292) on chromosome 11q12.
Andrea Superti-Furga is a Swiss-Italian pediatrician, geneticist and molecular biologist. He is the head of the Division of Genetic Medicine at the Lausanne University Hospital (CHUV) and a professor at the Faculty of Medicine and Biology of the University of Lausanne.
Cousin syndrome is a genetic condition characterized by short stature at birth, a short neck with low-positioned external ears, as well as congenital malformations of the skeletal system affecting the shoulders, the pelvis, the neck, and the limbs. The condition determines physical disability, particularly affecting deambulation, and hearing loss while intelligence is not affected.
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.