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THOC5 is ubiquitously expressed in many tissues

essential proteins involved in the innate immune response to viral infection

The coding region for this gene is located entirely in the terminal exon

Mutations in this gene cause cleft lip and palate/ectodermal dysplasia 1 syndrome (CLPED1) as well as non-syndromic cleft lip with or without cleft palate (CL/P)

APTX Polyclonal Antibody, 100ul Culture Media Unleash the potential of yourThis gene encodes a member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single stranded DNA repair through its nucleotide binding activity and its diadenosine polyphosphate hydrolase activity. Mutations in this gene have been associated with ataxia ocular apraxia. Alternatively spliced transcript variants have been identified for this gene.