Gene: KPTN

Alternate names for this Gene: 2E4|MRT41

Gene Summary: This gene encodes a filamentous-actin-associated protein, which is involved in actin dynamics and plays an important role in neuromorphogenesis. This protein is part of the KICSTOR protein complex that localizes to lysosomes. Mutations in this gene result in an autosomal recessive form of intellectual disability. Alternatively spliced transcript variants have been found for this gene.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.32

Description of this Gene: kaptin, actin binding protein

Type of Gene: protein-coding

Gene: NAPA

Alternate names for this Gene: SNAPA

Gene Summary: This gene encodes a member of the soluble NSF attachment protein (SNAP) family. SNAP proteins play a critical role in the docking and fusion of vesicles to target membranes as part of the 20S NSF-SNAP-SNARE complex. The encoded protein plays a role in the completion of membrane fusion by mediating the interaction of N-ethylmaleimide-sensitive factor (NSF) with the vesicle-associated and membrane-associated SNAP receptor (SNARE) complex, and stimulating the ATPase activity of NSF. Alternatively spliced transcript variants have been observed for this gene.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.32-q13.33

Description of this Gene: NSF attachment protein alpha

Type of Gene: protein-coding

Gene: NAPA-AS1

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene: