🧬 基因注释：HJV

官方名称：hemojuvelin BMP co-receptor

功能摘要：The product of this gene is involved in iron metabolism. It may be a component of the signaling pathway which activates hepcidin or it may act as a modulator of hepcidin expression. It could also represent the cellular receptor for hepcidin. Two uORFs in the 5' UTR negatively regulate the expression and activity of the encoded protein. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. Defects in this gene are the cause of hemochromatosis type 2A, also called juvenile hemochromatosis (JH). JH is an early-onset autosomal recessive disorder due to severe iron overload resulting in hypogonadotrophic hypogonadism, hepatic fibrosis or cirrhosis and cardiomyopathy, occurring typically before age of 30. [provided by RefSeq, Oct 2015].

• HNRNPM 综合评分: 0.474 · 证据 2 条
• HNRNPK 综合评分: 0.362 · 证据 2 条
• PTBP1 综合评分: 0.300 · 证据 2 条
• RBM10 综合评分: 0.250 · 证据 2 条
• TIA1 综合评分: 0.250 · 证据 1 条
• Tardbp 综合评分: 0.212 · 证据 1 条
• RBM17 综合评分: 0.200 · 证据 2 条
• XRN2 综合评分: 0.162 · 证据 1 条
• Srsf1 综合评分: 0.150 · 证据 1 条
• U2af1 综合评分: 0.150 · 证据 1 条
• RBM20 综合评分: 0.100 · 证据 2 条
• Rbm7 综合评分: 0.100 · 证据 1 条

该基因暂无关联疾病记录