Gene: BAIAP2L2
Alternate names for this Gene: -
Gene Summary: The protein encoded by this gene binds phosphoinositides and promotes the formation of planar or curved membrane structures. The encoded protein is found in RAB13-positive vesicles and at intercellular contacts with the plasma membrane.
Gene is located in Chromosome: 22
Location in Chromosome : 22q13.1
Description of this Gene: BAR/IMD domain containing adaptor protein 2 like 2
Type of Gene: protein-coding
Gene: PLA2G6
Alternate names for this Gene: CaI-PLA2|GVI|INAD1|IPLA2-VIA|NBIA2|NBIA2A|NBIA2B|PARK14|PLA2|PNPLA9|iPLA2|iPLA2beta
Gene Summary: The protein encoded by this gene is an A2 phospholipase, a class of enzyme that catalyzes the release of fatty acids from phospholipids. The encoded protein may play a role in phospholipid remodelling, arachidonic acid release, leukotriene and prostaglandin synthesis, fas-mediated apoptosis, and transmembrane ion flux in glucose-stimulated B-cells. Several transcript variants encoding multiple isoforms have been described, but the full-length nature of only three of them have been determined to date.
Gene is located in Chromosome: 22
Location in Chromosome : 22q13.1
Description of this Gene: phospholipase A2 group VI
Type of Gene: protein-coding
rs121908680 in
BAIAP2L2;PLA2G6 gene and
Infantile Neuroaxonal Dystrophy
PMID 18799783 2008 Neurodegeneration associated with genetic defects in phospholipase A(2).
PMID 27378808 2016 Child Neurology: Two sisters with dystonia and regression: PLA2G6-associated neurodegeneration.
PMID 18359254 2008 Infantile neuroaxonal dystrophy: what's most important for the diagnosis?
PMID 16783378 2006 PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.
PMID 24745848 2014 PLA2G6-associated neurodegeneration (PLAN): further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease.
PMID 20886109 2010 Catalytic function of PLA2G6 is impaired by mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism.
PMID 20619503 2012 Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations.
rs121908687 in
BAIAP2L2;PLA2G6 gene and
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
PMID 23279440 2013 EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease.
PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.
PMID 20886109 2010 Catalytic function of PLA2G6 is impaired by mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism.
PMID 18570303 2009 Characterization of PLA2G6 as a locus for dystonia-parkinsonism.