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Q96IP4 Proteins with OtherRepeats Repeats

Uniprot ID: Q96IP4	Protein name : Terminal nucleotidyltransferase 5A	Gene : TENT5A C6orf37 FAM46A XTP11
Protein Families : TENT family	Squence Length : 442

Sequence	>Q96IP4 443 MAEGEGYFAMSEDELACSPYIPLGGDFGGGDFGGGDFGGGDFGGGGSFGGHCLDYCESPTAHCNVLNWEQVQRLDGILSETIPIHGRGNFPTLELQPSLIVKVVRRRLAEKRIGVRDVRLNGSAASHVLHQDSGLGYKDLDLIFCADLRGEGEFQTVKDVVLDCLLDFLPEGVNKEKITPLTLKEAYVQKMVKVCNDSDRWSLISLSNNSGKNVELKFVDSLRRQFEFSVDSFQIKLDSLLLFYECSENPMTETFHPTIIGESVYGDFQEAFDHLCNKIIATRNPEEIRGGGLLKYCNLLVRGFRPASDEIKTLQRYMCSRFFIDFSDIGEQQRKLESYLQNHFVGLEDRKYEYLMTLHGVVNESTVCLMGHERRQTLNLITMLAIRVLADQNVIPNVANVTCYYQPAPYVADANFSNYYIAQVQPVFTCQQQTYSTWLPCN
Repeat regions	REPEAT 24 28 1 REPEAT 29 33 2 REPEAT 34 38 3 REPEAT 39 43 4
Sequence region of repeats	24- 28 DFGGG 29- 33 DFGGG 34- 38 DFGGG 39- 43 DFGGG
Function	Probable nucleotidyltransferase that may act as a non-canonical poly(A) RNA polymerase
Mutation
Disease	"DISEASE: Osteogenesis imperfecta 18 (OI18) [MIM:617952]: An autosomal recessive form of osteogenesis imperfecta, a connective tissue disorder 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 Note=The disease is caused by mutations affecting the gene represented in this entry"