PPFIBP1 Chromosome 12
PPFIB scaffold protein 1
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What This Gene Does
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]
Gene Info
Gene Group
"Sterile alpha motif domain containing|PPFI scaffold protein family"
Locus Type
gene with protein product
Location
12p11.23-p11.22
Ensembl
ENSG00000110841
Associated Conditions (9)
Inborn genetic diseases
Neurodevelopmental disorder with seizures
microcephaly
and brain abnormalities
Microcephaly
Severe intellectual disability
Cerebral calcification
Seizure
See cases
Key Variants
RS200119939
Conflicting classifications of pathogenicity
Inborn genetic diseases, Neurodevelopmental disorder with seizures, microcephaly
Health Risk
RS2544259795
Likely pathogenic
Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities
Health Risk
RS1363198922
Pathogenic
Microcephaly, Severe intellectual disability, Cerebral calcification
Health Risk
RS143847599
Pathogenic
Microcephaly, Severe intellectual disability, Cerebral calcification
Health Risk
RS146185523
Pathogenic
Microcephaly, Severe intellectual disability, Cerebral calcification
Health Risk
RS1593356841
Pathogenic
See cases, See cases
Health Risk
RS2059916812
Pathogenic
Microcephaly, Severe intellectual disability, Cerebral calcification
Health Risk
RS2140201554
Pathogenic
Microcephaly, Severe intellectual disability, Cerebral calcification
Health Risk
RS2140228979
Pathogenic
Microcephaly, Severe intellectual disability, Cerebral calcification
Health Risk
RS2140278432
Pathogenic
Microcephaly, Severe intellectual disability, Cerebral calcification
Health Risk
RS2140279716
Pathogenic
Microcephaly, Severe intellectual disability, Cerebral calcification
Health Risk
RS2140520299
Pathogenic
Microcephaly, Severe intellectual disability, Cerebral calcification
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200119939 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Neurodevelopmental disorder with seizures, microcephaly |
| RS2544259795 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities |
| RS1363198922 | Health Risk | Pathogenic | Microcephaly, Severe intellectual disability, Cerebral calcification |
| RS143847599 | Health Risk | Pathogenic | Microcephaly, Severe intellectual disability, Cerebral calcification |
| RS146185523 | Health Risk | Pathogenic | Microcephaly, Severe intellectual disability, Cerebral calcification |
| RS1593356841 | Health Risk | Pathogenic | See cases, See cases |
| RS2059916812 | Health Risk | Pathogenic | Microcephaly, Severe intellectual disability, Cerebral calcification |
| RS2140201554 | Health Risk | Pathogenic | Microcephaly, Severe intellectual disability, Cerebral calcification |
| RS2140228979 | Health Risk | Pathogenic | Microcephaly, Severe intellectual disability, Cerebral calcification |
| RS2140278432 | Health Risk | Pathogenic | Microcephaly, Severe intellectual disability, Cerebral calcification |
| RS2140279716 | Health Risk | Pathogenic | Microcephaly, Severe intellectual disability, Cerebral calcification |
| RS2140520299 | Health Risk | Pathogenic | Microcephaly, Severe intellectual disability, Cerebral calcification |
| RS2543706043 | Health Risk | Pathogenic | Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities |