Identity
HGNC
LOCATION
6p21.33
LOCUSID
ALIAS
BAT5,D6S82E,NG26,PP199,hBAT5
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: 7920
MIM: 142620
HGNC: 13921
Ensembl: ENSG00000204427
Variants:
dbSNP: 7920
ClinVar: 7920
TCGA: ENSG00000204427
COSMIC: ABHD16A
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34866177 | 2022 | A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face. | 2 |
| 34866177 | 2022 | A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face. | 2 |
| 34587489 | 2021 | ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies. | 5 |
| 34587489 | 2021 | ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies. | 5 |
| 32462874 | 2020 | Mapping the Neuroanatomy of ABHD16A, ABHD12, and Lysophosphatidylserines Provides New Insights into the Pathophysiology of the Human Neurological Disorder PHARC. | 14 |
| 32462874 | 2020 | Mapping the Neuroanatomy of ABHD16A, ABHD12, and Lysophosphatidylserines Provides New Insights into the Pathophysiology of the Human Neurological Disorder PHARC. | 14 |
| 29794032 | 2018 | Sequence analysis and structure prediction of ABHD16A and the roles of the ABHD family members in human disease. | 15 |
| 29794032 | 2018 | Sequence analysis and structure prediction of ABHD16A and the roles of the ABHD family members in human disease. | 15 |
| 25290914 | 2014 | Biochemical and pharmacological characterization of the human lymphocyte antigen B-associated transcript 5 (BAT5/ABHD16A). | 17 |
| 25290914 | 2014 | Biochemical and pharmacological characterization of the human lymphocyte antigen B-associated transcript 5 (BAT5/ABHD16A). | 17 |
| 20406964 | 2010 | Risk of meningioma and common variation in genes related to innate immunity. | 21 |
| 20438785 | 2010 | Polymorphisms in innate immunity genes and risk of childhood leukemia. | 12 |
| 20626023 | 2010 | Human lymphocyte antigen B-associated transcript 2, 3, and 5 polymorphisms and haplotypes are associated with susceptibility of Kawasaki disease and coronary artery aneurysm. | 21 |
| 20626023 | 2010 | Human lymphocyte antigen B-associated transcript 2, 3, and 5 polymorphisms and haplotypes are associated with susceptibility of Kawasaki disease and coronary artery aneurysm. | 21 |
| 21044367 | 2010 | An integrative method for scoring candidate genes from association studies: application to warfarin dosing. | 11 |
Citation
Dessen P
ABHD16A (abhydrolase domain containing 16A, phospholipase)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54098/abhd16a-(abhydrolase-domain-containing-16a-phospholipase)
