NAIP
NLR family apoptosis inhibitory protein
Summary
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. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Nov 2016]
Known Variants12 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs28751879 | 5:70,305,553 | A/G | — | — |
| rs981297751 | 5:70,308,420 | C/T | — | uncertain significance |
| rs142807071 | 5:70,308,422 | G/A | — | likely benign |
| rs775307539 | 5:70,308,493 | C/T | — | uncertain significance |
| rs2532277149 | 5:70,308,511 | G/A | — | uncertain significance |
| rs115486998 | 5:70,308,554 | C/A | — | likely benign |
| rs1466141114 | 5:70,308,570 | C/T | — | uncertain significance |
| rs189765950 | 5:70,308,603 | G/C | — | uncertain significance |
| rs896725873 | 5:70,308,624 | T/C | — | uncertain significance |
| rs2532278470 | 5:70,308,628 | C/T | — | uncertain significance |
| rs141020129 | 5:70,308,643 | A/G | — | likely benign |
| rs773685719 | 5:70,308,735 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.