PNPLA6 Chromosome 19
Patatin like domain 6, lysophospholipase
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What This Gene Does
This gene encodes a phospholipase that deacetylates intracellular phosphatidylcholine to produce glycerophosphocholine. It is thought to function in neurite outgrowth and process elongation during neuronal differentiation. The protein is anchored to the cytoplasmic face of the endoplasmic reticulum in both neurons and non-neuronal cells. Mutations in this gene result in autosomal recessive spastic paraplegia, and the protein is the target for neurodegeneration induced by organophosphorus compounds and chemical warfare agents. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Gene Info
Gene Group
Patatin like phospholipase domain containing
Locus Type
gene with protein product
Location
19p13.2
Ensembl
ENSG00000032444
Associated Conditions (23)
Hereditary spastic paraplegia 39
Rod-cone dystrophy
Ataxia-hypogonadism-choroidal dystrophy syndrome
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Cerebellar ataxia-hypogonadism syndrome
Laurence-Moon syndrome
PNPLA6-related disorder
Hereditary spastic paraplegia
Inborn genetic diseases
Retinal dystrophy
Cholangiocarcinoma
Cervical cancer
Hepatocellular carcinoma
Gastric cancer
Retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome
Spastic ataxia
Sarcoma
Hypogonadotropic hypogonadism 7 with or without anosmia
Dysarthria
Cerebellar ataxia
+3 more conditions
Key Variants
RS1030480370
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
Health Risk
RS1057517802
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 39, Rod-cone dystrophy, Ataxia-hypogonadism-choroidal dystrophy syndrome
Health Risk
RS116012798
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 39, PNPLA6-related disorder, Hereditary spastic paraplegia 39
Health Risk
RS1178206789
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
Health Risk
RS138023728
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 39, Hereditary spastic paraplegia, Hereditary spastic paraplegia 39
Health Risk
RS138837774
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 39, Hereditary spastic paraplegia, PNPLA6-related disorder
Health Risk
RS140825810
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
Health Risk
RS143060121
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 39, Hereditary spastic paraplegia, PNPLA6-related disorder
Health Risk
RS144028775
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 39, Inborn genetic diseases, Hereditary spastic paraplegia 39
Health Risk
RS145191932
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 39, Hereditary spastic paraplegia, Hereditary spastic paraplegia 39
Health Risk
RS145459571
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
Health Risk
RS145988230
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 39, Hereditary spastic paraplegia, PNPLA6-related disorder
Health Risk
All Variants (177)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2512571754 | Health Risk | Pathogenic | Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39 |
| RS541098659 | Health Risk | Pathogenic | Ataxia-hypogonadism-choroidal dystrophy syndrome, Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39 |
| RS562113164 | Health Risk | Pathogenic | Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39 |
| RS587777181 | Health Risk | Pathogenic | Ataxia-hypogonadism-choroidal dystrophy syndrome, Hereditary spastic paraplegia 39, Ataxia-hypogonadism-choroidal dystrophy syndrome |
| RS587777183 | Health Risk | Pathogenic | Ataxia-hypogonadism-choroidal dystrophy syndrome, Ataxia-hypogonadism-choroidal dystrophy syndrome |
| RS587777615 | Health Risk | Pathogenic | Ataxia-hypogonadism-choroidal dystrophy syndrome, Ataxia-hypogonadism-choroidal dystrophy syndrome |
| RS587777853 | Health Risk | Pathogenic | Ataxia-hypogonadism-choroidal dystrophy syndrome, Ataxia-hypogonadism-choroidal dystrophy syndrome |
| RS606231167 | Health Risk | Pathogenic | Hereditary spastic paraplegia 39, Laurence-Moon syndrome, Trichomegaly-retina pigmentary degeneration-dwarfism syndrome |
| RS606231249 | Health Risk | Pathogenic | Ataxia-hypogonadism-choroidal dystrophy syndrome, Hereditary spastic paraplegia 39, Ataxia-hypogonadism-choroidal dystrophy syndrome |
| RS745725479 | Health Risk | Pathogenic | Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39 |
| RS753221489 | Health Risk | Pathogenic | Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39 |
| RS756591718 | Health Risk | Pathogenic | Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39 |
| RS757382473 | Health Risk | Pathogenic | — |
| RS765221332 | Health Risk | Pathogenic | Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39 |
| RS765307463 | Health Risk | Pathogenic | Hereditary spastic paraplegia 39, Inborn genetic diseases, Hereditary spastic paraplegia 39 |
| RS766796997 | Health Risk | Pathogenic | Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39 |
| RS768438032 | Health Risk | Pathogenic | Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39 |
| RS770788088 | Health Risk | Pathogenic | Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39 |
| RS774188638 | Health Risk | Pathogenic | Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39 |
| RS786201037 | Health Risk | Pathogenic | Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, Ataxia-hypogonadism-choroidal dystrophy syndrome, Hereditary spastic paraplegia 39 |
| RS1057518107 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39 |
| RS1236012815 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39 |
| RS370033046 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 39, Ataxia-hypogonadism-choroidal dystrophy syndrome, Hereditary spastic paraplegia |
| RS374434303 | Health Risk | Pathogenic/Likely pathogenic | Hypogonadotropic hypogonadism 7 with or without anosmia, Dysarthria, Cerebellar ataxia |
| RS587777182 | Health Risk | Pathogenic/Likely pathogenic | Ataxia-hypogonadism-choroidal dystrophy syndrome, Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, Hereditary spastic paraplegia 39 |
| RS587777185 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39 |
| RS756542477 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39 |