APTX Polyclonal Antibody, 100ul Culture Media Mutations in this gene cause

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)

essential proteins involved in the innate immune response to viral infection

PubMed: 22446626

Members of this family contain a phox (PX) domain| which is a phosphoinositide binding domain| and are involved in intracellular trafficking

It is thought to be a modulator of epithelial cell growth and a potential tumour suppressor in human breast carcinomas

APTX Polyclonal Antibody, 100ul Culture Media Mutations in this gene causeThis 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.