X-linked inhibitor of apoptosis protein (XIAP), also known as inhibitor of apoptosis protein 3 (IAP3) and baculoviral IAP repeat-containing protein 4 (BIRC4), is a protein that stops apoptotic cell death. In humans, this protein (XIAP) is produced by a gene named XIAP gene located on the X chromosome. [4] [5]

2024年12月25日 · XIAP (X-Linked Inhibitor Of Apoptosis) is a Protein Coding gene. Diseases associated with XIAP include Lymphoproliferative Syndrome, X-Linked, 2 and Lymphoproliferative Syndrome 2. Among its related pathways are SMAC (DIABLO) binds to IAPs and TNF signaling.

XLP2 is caused by a change in the XIAP gene. This is sometimes called the BIRC4 gene. The XIAP gene codes for the XIAP protein that the body needs to regulate the immune system.

The XIAP gene provides instructions for making a protein that is found in many types of cells, including immune cells. It helps protect these cells from self-destructing (undergoing apoptosis) by blocking (inhibiting) the action of certain enzymes called …

The XIAP gene produces a protein known as X-linked inhibitor of apoptosis (XIAP), which functions to prevent cell death. When alterations in the XIAP gene are present, usually less XIAP protein is produced, which is believed to result in decreased numbers …

X-linked lymphoproliferative disease due to XIAP deficiency is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing.

Mutations in a gene called XIAP (also known as BIRC4) cause XLP-2. The XIAP gene produces a protein known as X-linked inhibitor of apoptosis (XIAP). This protein helps to prevent cell death.

The XIAP gene belongs to the 'inhibitor of apoptosis protein' (IAP) gene family, which also includes HIAP1 (601721), and HIAP2 (601712). XIAP has a capacity to block apoptosis by directly inhibiting certain caspases.

2010年8月19日 · Deficiency of X-linked inhibitor of apoptosis (XIAP), caused by BIRC4 gene mutations, was discovered to be associated with X-linked lymphoproliferative disease (XLP) phenotypes among 12 patients from 3 families by Rigaud et al in 2006. 1 Before this, XLP was known only to be associated with mutations in SH2D1A, which encodes SLAM-Associated ...

2021年6月16日 · Today, XIAP deficiency is regarded primarily as a disorder of immune dysregulation and hyperinflammation. XIAP is encoded by the XIAP/BIRC4 gene, which consists of 6 coding exons. To date over 90 disease causing mutations have been described (Figure 1).