Aliases for NIPSNAP1 Gene
External Ids for NIPSNAP1 Gene
Previous GeneCards Identifiers for NIPSNAP1 Gene
This gene encodes a member of the NipSnap family of proteins that may be involved in vesicular transport. A similar protein in mice inhibits the calcium channel TRPV6, and is also localized to the inner mitochondrial membrane where it may play a role in mitochondrial DNA maintenance. A pseudogene of this gene is located on the short arm of chromosome 17. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]
GeneCards Summary for NIPSNAP1 Gene
NIPSNAP1 (Nipsnap Homolog 1) is a Protein Coding gene. Diseases associated with NIPSNAP1 include Phenylketonuria and Maple Syrup Urine Disease, Type Ii. Among its related pathways are Neuroscience and Ca, cAMP and Lipid Signaling. GO annotations related to this gene include neurotransmitter binding. An important paralog of this gene is NIPSNAP2.