Gene: PNPLA6

Alternate names for this Gene: BNHS|LNMS|NTE|NTEMND|OMCS|SPG39|iPLA2delta|sws

Gene Summary: 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.

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.2

Description of this Gene: patatin like phospholipase domain containing 6

Type of Gene: protein-coding

Gene: MCOLN1

Alternate names for this Gene: MG-2|ML1|ML4|MLIV|MST080|MSTP080|TRP-ML1|TRPM-L1|TRPML1

Gene Summary: This gene encodes a memberof the transient receptor potential (TRP) cation channel gene family. The transmembrane protein localizes to intracellular vesicular membranes including lysosomes, and functions in the late endocytic pathway and in the regulation of lysosomal exocytosis. The channel is permeable to Ca(2+), Fe(2+), Na(+), K(+), and H(+), and is modulated by changes in Ca(2+) concentration. Mutations in this gene result in mucolipidosis type IV.

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.2

Description of this Gene: mucolipin TRP cation channel 1

Type of Gene: protein-coding