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

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

rs121908686 in PLA2G6;BAIAP2L2 gene and Infantile Neuroaxonal Dystrophy PMID 26196026 2015 PLA2G6-associated Dystonia-Parkinsonism: Case Report and Literature Review.

PMID 20669327 2010 Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations.

PMID 27268037 2016 Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families.

PMID 26668131 2016 The patients with INAD had PLA2G6 mutations NM_003560.2: c.[950G>T];[426-1077dup] and c.[1799G>A];[2221C>T] and the patient with dystonia-parkinsonism had PLA2G6 mutations NM_003560.2: c.[609G>A];[2222G>A].

PMID 18570303 2009 Characterization of PLA2G6 as a locus for dystonia-parkinsonism.

rs121908686 in PLA2G6;BAIAP2L2 gene and PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE PMID 23279440 2013 EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease.

PMID 18570303 2009 Characterization of PLA2G6 as a locus for dystonia-parkinsonism.