Description
Product Characteristics:
Prevents motor-neuron apoptosis induced by a variety of signals. Possible role in the prevention of spinal muscular atrophy that seems to be caused by inappropriate persistence of motor-neuron apoptosis: mutated or deleted forms of NAIP have been found in individuals with severe spinal muscular atrophy.
Subcellular location: Nucleus, Secreted, Cell membrane, Extracellular matrix
Synonyms: Baculoviral IAP repeat containing 1, Baculoviral IAP repeat-containing protein 1, BIRC 1, BIRC1, BIRC1_HUMAN, Birc1a, NAIP, Naip1, Neuronal apoptosis inhibitory protein, NLR family apoptosis inhibitory protein, NLR family BIR domain containing 1, NLRB 1, NLRB1, Nucleotide binding oligomerization domain leucine rich repeat and BIR domain containing 1, Psi neuronal apoptosis inhibitory protein, psiNAIP, Similar to occludin.
Target Information: This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This copy of the gene is full length\, additional copies with truncations and internal deletions are also present in this region of chromosome 5q13. It is thought that this gene is a modifier of spinal muscular atrophy caused by mutations in a neighboring gene, SMN1. The protein encoded by this gene contains regions of homology to two baculovirus inhibitor of apoptosis proteins, and it is able to suppress apoptosis induced by various signals. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]