TENT5A

Cytoplasmic non-canonical poly(A) RNA polymerase that catalyzes the transfer of one adenosine molecule from an ATP to an mRNA poly(A) tail bearing a 3'-OH terminal group and participates in the cytoplasmic polyadenylation (PubMed:33882302). Polyadenylates mRNA encoding extracellular matrix constituents and other genes crucial for bone mineralization and during osteoblast mineralization, mainly focuses on ER-targeted mRNAs (By similarity).

Osteogenesis imperfecta 18

OI18

An autosomal recessive form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI18 is a severe form characterized by congenital bowing of the lower limb, wormian bones, blue sclerae, vertebral collapses and multiple fractures in the first years of life.

None

The disease is caused by variants affecting the gene represented in this entry.

Belongs to the TENT family.

Widely expressed, with preferential expression observed in the retina compared to other ocular tissues (PubMed:12054608). Also expressed in osteoblasts (PubMed:29358272).

• Cytoplasm

C6orf37, FAM46A, XTP11, TENT5A, Terminal nucleotidyltransferase 5A, HBV X-transactivated gene 11 protein, HBV XAg-transactivated protein 11

• entrezGene:55603
• omim:611357
• swissprot:Q96IP4

Proteins

49666Da