PPFIBP1

Chr 12

PPFIB scaffold protein 1

Also known as: L2, NEDSMBA, SGT2, hSGT2, hSgt2p

NCBI Gene: 8496 ENSG00000110841 UniProt: Q86W92

The protein encoded by PPFIBP1 is a member of the liprin family that acts as a scaffold for recruiting and anchoring LAR family tyrosine phosphatases and may regulate focal adhesion disassembly. Biallelic mutations cause autosomal recessive neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.751), suggesting some tolerance to functional disruption.

ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This protein was found to interact with S100A4, a calcium-binding protein related to tumor invasiveness and metastasis. In vitro experiment demonstrated that the interaction inhibited the phosphorylation of this protein by protein kinase C and protein kinase CK2. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…