基因信息:
基因名称:
apoptosis-inducing factor, mitochondrion-associated, 1
物种:
NCBI 基因身份号(GeneID):
9131
官方基因符号(Symbol):
AIFM1
曾用基因符号:
AIF|COXPD6|PDCD8

This gene encodes a flavoprotein essential for nuclear disassembly in apoptotic cells, and it is found in the mitochondrial intermembrane space in healthy cells. Induction of apoptosis results in the translocation of this protein to the nucleus where it affects chromosome condensation and fragmentation. In addition, this gene product induces mitochondria to release the apoptogenic proteins cytochrome c and caspase-9. Mutations in this gene cause combined oxidative phosphorylation deficiency 6 (COXPD6), a severe mitochondrial encephalomyopathy, as well as Cowchock syndrome, also known as X-linked recessive Charcot-Marie-Tooth disease-4 (CMTX-4), a disorder resulting in neuropathy, and axonal and motor-sensory defects with deafness and mental retardation. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 10. [provided by RefSeq, Aug 2015].

该基因有下列转录产物(transcript):
NM_001130846.2
NM_001130847.3
NM_004208.3
NM_145812.2
NM_145813.2
产品:
产品编号 检测的转录产物
EXPHS6066873 NM_145812.2
EXPHS93971 NM_001130847.3 NM_004208.3 NM_145812.2
EXPHS93894 NM_001130847.3 NM_004208.3 NM_145812.2 NM_145813.2
EXPHS93942 NM_001130846.2 NM_001130847.3 NM_004208.3 NM_145812.2 NM_145813.2

说明:本公司表达谱PCR芯片产品使用该引物。