PPFIA3 Chromosome 19
PPFI scaffold protein A3
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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. Liprin family protein has been shown to localize phosphatase LAR to cell focal adhesions and may be involved in the molecular organization of presynaptic active zones. [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
19q13.33
Ensembl
ENSG00000177380
Associated Conditions (4)
PPFIA3-related disorder
Neurodevelopmental delay
PAUL-CHAO NEURODEVELOPMENTAL SYNDROME
PPFIA3-associated neurodevelopmental disorder
Key Variants
RS1295875245
Likely pathogenic
PPFIA3-related disorder, PPFIA3-related disorder
Health Risk
RS1398161401
Likely pathogenic
PPFIA3-related disorder, PPFIA3-related disorder
Health Risk
RS1407858532
Likely pathogenic
PPFIA3-related disorder, PPFIA3-related disorder
Health Risk
RS2513949103
Likely pathogenic
PPFIA3-related disorder, PPFIA3-related disorder
Health Risk
RS2513971056
Likely pathogenic
Health Risk
RS2513986047
Likely pathogenic
Health Risk
RS2513998618
Likely pathogenic
Neurodevelopmental delay, Neurodevelopmental delay
Health Risk
RS372174640
Likely pathogenic
PPFIA3-related disorder, PAUL-CHAO NEURODEVELOPMENTAL SYNDROME, PPFIA3-related disorder
Health Risk
RS777959324
Likely pathogenic
PPFIA3-related disorder, PPFIA3-related disorder
Health Risk
RS2513949085
Pathogenic
PAUL-CHAO NEURODEVELOPMENTAL SYNDROME, PAUL-CHAO NEURODEVELOPMENTAL SYNDROME
Health Risk
RS2513955324
Pathogenic
PPFIA3-associated neurodevelopmental disorder, PPFIA3-associated neurodevelopmental disorder
Health Risk
RS2513965447
Pathogenic
PPFIA3-related disorder, PAUL-CHAO NEURODEVELOPMENTAL SYNDROME, PPFIA3-related disorder
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1295875245 | Health Risk | Likely pathogenic | PPFIA3-related disorder, PPFIA3-related disorder |
| RS1398161401 | Health Risk | Likely pathogenic | PPFIA3-related disorder, PPFIA3-related disorder |
| RS1407858532 | Health Risk | Likely pathogenic | PPFIA3-related disorder, PPFIA3-related disorder |
| RS2513949103 | Health Risk | Likely pathogenic | PPFIA3-related disorder, PPFIA3-related disorder |
| RS2513971056 | Health Risk | Likely pathogenic | — |
| RS2513986047 | Health Risk | Likely pathogenic | — |
| RS2513998618 | Health Risk | Likely pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |
| RS372174640 | Health Risk | Likely pathogenic | PPFIA3-related disorder, PAUL-CHAO NEURODEVELOPMENTAL SYNDROME, PPFIA3-related disorder |
| RS777959324 | Health Risk | Likely pathogenic | PPFIA3-related disorder, PPFIA3-related disorder |
| RS2513949085 | Health Risk | Pathogenic | PAUL-CHAO NEURODEVELOPMENTAL SYNDROME, PAUL-CHAO NEURODEVELOPMENTAL SYNDROME |
| RS2513955324 | Health Risk | Pathogenic | PPFIA3-associated neurodevelopmental disorder, PPFIA3-associated neurodevelopmental disorder |
| RS2513965447 | Health Risk | Pathogenic | PPFIA3-related disorder, PAUL-CHAO NEURODEVELOPMENTAL SYNDROME, PPFIA3-related disorder |
| RS2513986270 | Health Risk | Pathogenic | PPFIA3-related disorder, PPFIA3-related disorder |
| RS979564073 | Health Risk | Pathogenic | PPFIA3-related disorder, PPFIA3-related disorder |
| RS2513986316 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental delay, PAUL-CHAO NEURODEVELOPMENTAL SYNDROME, Neurodevelopmental delay |