Identity
HGNC
LOCATION
20p11.21
LOCUSID
ALIAS
ABHD12A,BEM46L2,C20orf22,PHARC,dJ965G21.2,hABHD12
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 26090
MIM: 613599
HGNC: 15868
Ensembl: ENSG00000100997
Variants:
dbSNP: 26090
ClinVar: 26090
TCGA: ENSG00000100997
COSMIC: ABHD12
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34223797 | 2021 | Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome. | 10 |
| 34573385 | 2021 | The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12: An Ophthalmic Perspective. | 6 |
| 34223797 | 2021 | Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome. | 10 |
| 34573385 | 2021 | The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12: An Ophthalmic Perspective. | 6 |
| 32366405 | 2020 | ABHD12 Knockdown Suppresses Breast Cancer Cell Proliferation, Migration and Invasion. | 8 |
| 32462874 | 2020 | Mapping the Neuroanatomy of ABHD16A, ABHD12, and Lysophosphatidylserines Provides New Insights into the Pathophysiology of the Human Neurological Disorder PHARC. | 14 |
| 32366405 | 2020 | ABHD12 Knockdown Suppresses Breast Cancer Cell Proliferation, Migration and Invasion. | 8 |
| 32462874 | 2020 | Mapping the Neuroanatomy of ABHD16A, ABHD12, and Lysophosphatidylserines Provides New Insights into the Pathophysiology of the Human Neurological Disorder PHARC. | 14 |
| 30974196 | 2019 | A novel ABHD12 nonsense variant in Usher syndrome type 3 family with genotype-phenotype spectrum review. | 10 |
| 30974196 | 2019 | A novel ABHD12 nonsense variant in Usher syndrome type 3 family with genotype-phenotype spectrum review. | 10 |
| 30237167 | 2018 | Biochemical characterization of the PHARC-associated serine hydrolase ABHD12 reveals its preference for very-long-chain lipids. | 20 |
| 30237167 | 2018 | Biochemical characterization of the PHARC-associated serine hydrolase ABHD12 reveals its preference for very-long-chain lipids. | 20 |
| 27890673 | 2017 | Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC. | 18 |
| 28448692 | 2017 | A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature. | 11 |
| 27890673 | 2017 | Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC. | 18 |
Citation
Dessen P
ABHD12 (abhydrolase domain containing 12, lysophospholipase)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/60049/abhd12-(abhydrolase-domain-containing-12-lysophospholipase)
