PPIL1 Chromosome 6
Peptidylprolyl isomerase like 1
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What This Gene Does
This gene is a member of the cyclophilin family of peptidylprolyl isomerases (PPIases). The cyclophilins are a highly conserved, ubiquitous family, members of which play an important role in protein folding, immunosuppression by cyclosporin A, and infection of HIV-1 virions. Based on similarity to other PPIases, this protein could accelerate the folding of proteins and might catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Cyclophilin peptidylprolyl isomerases|Spliceosomal B complex|Spliceosomal Bact complex|Spliceosomal C complex|Spliceosomal P complex"
Locus Type
gene with protein product
Location
6p21.2
Ensembl
ENSG00000137168
Associated Conditions (4)
Congenital pontocerebellar hypoplasia
Pontocerebellar hypoplasia
type 14
Neurodevelopmental disorder
Key Variants
RS553128312
Conflicting classifications of pathogenicity
Congenital pontocerebellar hypoplasia, Pontocerebellar hypoplasia, type 14
Health Risk
RS1774173253
Likely pathogenic
Congenital pontocerebellar hypoplasia, Congenital pontocerebellar hypoplasia
Health Risk
RS1774516234
Likely pathogenic
Neurodevelopmental disorder, Pontocerebellar hypoplasia, type 14
Health Risk
RS2150653422
Likely pathogenic
Congenital pontocerebellar hypoplasia, Congenital pontocerebellar hypoplasia
Health Risk
RS2150653427
Likely pathogenic
Congenital pontocerebellar hypoplasia, Congenital pontocerebellar hypoplasia
Health Risk
RS2150653717
Likely pathogenic
Congenital pontocerebellar hypoplasia, Congenital pontocerebellar hypoplasia
Health Risk
RS374639625
Likely pathogenic
Pontocerebellar hypoplasia, type 14, Congenital pontocerebellar hypoplasia
Health Risk
RS765668519
Likely pathogenic
Congenital pontocerebellar hypoplasia, Congenital pontocerebellar hypoplasia
Health Risk
RS1583103432
Pathogenic/Likely pathogenic
Congenital pontocerebellar hypoplasia, Pontocerebellar hypoplasia, type 14
Health Risk
RS199818754
Pathogenic/Likely pathogenic
Congenital pontocerebellar hypoplasia, Pontocerebellar hypoplasia, type 14
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS553128312 | Health Risk | Conflicting classifications of pathogenicity | Congenital pontocerebellar hypoplasia, Pontocerebellar hypoplasia, type 14 |
| RS1774173253 | Health Risk | Likely pathogenic | Congenital pontocerebellar hypoplasia, Congenital pontocerebellar hypoplasia |
| RS1774516234 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Pontocerebellar hypoplasia, type 14 |
| RS2150653422 | Health Risk | Likely pathogenic | Congenital pontocerebellar hypoplasia, Congenital pontocerebellar hypoplasia |
| RS2150653427 | Health Risk | Likely pathogenic | Congenital pontocerebellar hypoplasia, Congenital pontocerebellar hypoplasia |
| RS2150653717 | Health Risk | Likely pathogenic | Congenital pontocerebellar hypoplasia, Congenital pontocerebellar hypoplasia |
| RS374639625 | Health Risk | Likely pathogenic | Pontocerebellar hypoplasia, type 14, Congenital pontocerebellar hypoplasia |
| RS765668519 | Health Risk | Likely pathogenic | Congenital pontocerebellar hypoplasia, Congenital pontocerebellar hypoplasia |
| RS1583103432 | Health Risk | Pathogenic/Likely pathogenic | Congenital pontocerebellar hypoplasia, Pontocerebellar hypoplasia, type 14 |
| RS199818754 | Health Risk | Pathogenic/Likely pathogenic | Congenital pontocerebellar hypoplasia, Pontocerebellar hypoplasia, type 14 |