Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

FAM20C Overview: Classic and Novel Targets, Pathogenic Variants and Raine Syndrome Phenotypes.

International journal of molecular sciences - 27 Jul 2021

Palma-Lara Icela, Pérez-Ramírez Monserrat, García Alonso-Themann Patricia, Espinosa-García Ana María, Godinez-Aguilar Ricardo, Bonilla-Delgado José, López-Ornelas Adolfo, Victoria-Acosta Georgina, Olguín-García María Guadalupe, Moreno José, Palacios-Reyes Carmen

Abstract excerpt

FAM20C is a gene coding for a protein kinase that targets S-X-E/pS motifs on different phosphoproteins belonging to diverse tissues. Pathogenic variants of FAM20C are responsible for Raine syndrome (RS), initially described as a lethal and congenital osteosclerotic dysplasia characterized by generalized atherosclerosis with periosteal bone formation, characteristic facial dysmorphisms and intracerebral...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Abnormalities, Multiple
Share to Casein Kinase I

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cleft Palate

Share to Extracellular Matrix Proteins

Share to Genetic Variation

Share to Microcephaly

Share to Osteosclerosis

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 34360805
DOI: 10.3390/ijms22158039
PMCID: PMC8348777

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

FAM20C Overview: Classic and Novel Targets, Pathogenic Variants and Raine Syndrome Phenotypes.PMID 34360805Read ↗

Mutations of family with sequence similarity 20-member C gene causing lethal and nonlethal Raine syndrome causes hypophosphatemia rickets.Semantic proximity Read ↗

FAM20C and FAM20A in normal and ectopic mineralization: A focus on oro-renal syndromes.Semantic proximity Read ↗

An Uncommon Case of Hypophosphataemia-Non-Lethal Raine Syndrome With Novel FAM20C Variant: Expanding the Phenotypic Spectrum.Semantic proximity Read ↗

Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660)Semantic proximity Read ↗

Atypical Presentation of Raine Syndrome in a Middle-aged Lady.Semantic proximity Read ↗

Raine syndrome: Prenatally identified severe craniofacial phenotype with multisuture synostosis and brain abnormalities associated with variants in FAM20C.Semantic proximity Read ↗

Mutant Fam20c knock-in mice recapitulate both lethal and non-lethal human Raine Syndrome.Semantic proximity Read ↗

Recurrent variant c.1680C>A in FAM20C gene and genotype-phenotype correlation in a patient with Raine syndrome: a case report.Semantic proximity Read ↗

Secreted kinase phosphorylates extracellular proteins that regulate biomineralization.Semantic proximity Read ↗

Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development.Semantic proximity Read ↗

The Raine syndrome protein FAM20C is a Golgi kinase that phosphorylates bio-mineralization proteins.Semantic proximity Read ↗

Mutant Fam20c knock-in mice recapitulate both lethal and non-lethal human Raine SyndromeSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.