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A mutation in mouse Pak1ip1 causes orofacial clefting while human PAK1IP1 maps to 6p24 translocation breaking points associated with orofacial clefting.
Results suggest that the PAK-PIX-GIT1 complex is critical for Erk-dependent myosin phosphorylation and vascular permeability.
This gene encodes a protein that is involved in telomere function. This protein is one of six core proteins in the telosome/shelterin telomeric complex, which functions to maintain telomere length and to protect telomere ends. Through its interaction with other components, this protein plays a key role in the assembly and stabilization of this complex, and it mediates the access of telomerase to the telomere. Multiple transcript variants encoding different isoforms have been found for this gene. This gene, which is also referred to as TPP1, is distinct from the unrelated TPP1 gene on chromosome 11, which encodes tripeptidyl-peptidase I.
PAK/PLC-interacting protein 1
, PAK1-interacting protein 1
, WD repeat-containing protein 84
, p21-activated protein kinase-interacting protein 1
, glycerophosphodiester phosphodiesterase domain containing 1
, putative PAK inhibitor Skb15
, p21-activated protein kinase-interacting protein 1-like
, PAK1 interacting protein 1
, PAK1-interacting protein 1-like