Pseudokinase FAM20A is a

protein Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...

that in humans is encoded by the ''FAM20A''

gene In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...

Function

FAM20A belongs to an evolutionarily conserved family of

secreted protein A secretory protein is any protein, whether it be endocrine or exocrine, which is secreted by a cell. Secretory proteins include many hormones, enzymes, toxins, and antimicrobial peptides. Secretory proteins are synthesized in the endoplasmic reti ...

s expressed in many tissues. This locus encodes a protein that is likely secreted and may function in

hematopoiesis Haematopoiesis (; ; also hematopoiesis in American English, sometimes h(a)emopoiesis) is the formation of blood cellular components. All cellular blood components are derived from haematopoietic stem cells. In a healthy adult human, roughly ten ...

Alternatively spliced Alternative splicing, alternative RNA splicing, or differential splicing, is an alternative RNA splicing, splicing process during gene expression that allows a single gene to produce different splice variants. For example, some exons of a gene ma ...

transcript variants have been identified. rovided by RefSeq, Aug 2011

Clinical significance

mutation In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, ...

in ''FAM20A'' was reported to be associated with

amelogenesis imperfecta Amelogenesis imperfecta (AI) is a congenital disorder which presents with a rare abnormal formation of the Tooth enamel, enamel or external layer of the crown of teeth, unrelated to any systemic or generalized conditions. Enamel is composed mostly ...

, an inherited enamel defect, and

gingival hyperplasia Gingival enlargement is an increase in the size of the gingiva (gums). It is a common feature of gingival disease. Gingival enlargement can be caused by a number of factors, including inflammatory conditions and the side effects of certain medica ...

syndrome. Human mutations in ''FAM20A'' were also reported to cause Enamel-Renal Syndrome, an

autosomal recessive disorder In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and ...

characterized by severe

enamel hypoplasia Enamel hypoplasia is a defect of the teeth in which the enamel is deficient in quantity, caused by defective enamel matrix formation during enamel development, as a result of inherited and acquired systemic condition(s). It can be identified as ...

, failed tooth eruption, intrapulpal calcifications, enlarged

gingiva The gums or gingiva (: gingivae) consist of the mucosal tissue that lies over the mandible and maxilla inside the mouth. Gum health and disease can have an effect on general health. Structure The gums are part of the soft tissue lining of the ...

, and

nephrocalcinosis Nephrocalcinosis, once known as Albright's calcinosis after Fuller Albright, is a term originally used to describe the deposition of poorly soluble calcium salts in the renal parenchyma due to hyperparathyroidism. The term nephrocalcinosis is u ...

References

Human proteins {{gene-17-stub