🧬 基因注释：HAX1

官方名称：HCLS1 associated protein X-1

功能摘要：The protein encoded by this gene is known to associate with hematopoietic cell-specific Lyn substrate 1, a substrate of Src family tyrosine kinases. It also interacts with the product of the polycystic kidney disease 2 gene, mutations in which are associated with autosomal-dominant polycystic kidney disease, and with the F-actin-binding protein, cortactin. It was earlier thought that this gene product is mainly localized in the mitochondria, however, recent studies indicate it to be localized in the cell body. Mutations in this gene result in autosomal recessive severe congenital neutropenia, also known as Kostmann disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].

• FUS 综合评分: 0.424 · 证据 1 条
• fus 综合评分: 0.424 · 证据 1 条
• HNRNPA2B1 综合评分: 0.412 · 证据 2 条
• PTBP1 综合评分: 0.362 · 证据 2 条
• RBFOX2 综合评分: 0.362 · 证据 2 条
• RBM10 综合评分: 0.312 · 证据 2 条
• RBM15 综合评分: 0.312 · 证据 2 条
• SRSF2 综合评分: 0.300 · 证据 1 条
• SRSF9 综合评分: 0.300 · 证据 1 条
• Srsf2 综合评分: 0.300 · 证据 1 条
• Tardbp 综合评分: 0.274 · 证据 1 条
• U2af2 综合评分: 0.260 · 证据 1 条
• EWSR1 综合评分: 0.250 · 证据 2 条
• TIA1 综合评分: 0.250 · 证据 1 条
• Srsf4 综合评分: 0.248 · 证据 1 条
• U2af1 综合评分: 0.248 · 证据 1 条
• Rnps1 综合评分: 0.224 · 证据 1 条
• CPSF6 综合评分: 0.212 · 证据 2 条
• Srsf1 综合评分: 0.212 · 证据 1 条
• Srsf3 综合评分: 0.212 · 证据 1 条

该基因暂无关联疾病记录