🧬 基因注释:LEPR
官方名称:leptin receptor
功能摘要:The protein encoded by this gene belongs to the gp130 family of cytokine receptors that are known to stimulate gene transcription via activation of cytosolic STAT proteins. This protein is a receptor for leptin (an adipocyte-specific hormone that regulates body weight), and is involved in the regulation of fat metabolism, as well as in a novel hematopoietic pathway that is required for normal lymphopoiesis. Mutations in this gene have been associated with obesity and pituitary dysfunction. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. It is noteworthy that this gene and LEPROT gene (GeneID:54741) share the same promoter and the first 2 exons, however, encode distinct proteins (PMID:9207021).[provided by RefSeq, Nov 2010].
- HNRNPH1 综合评分: 0.474 · 证据 2 条
- HNRNPA1 综合评分: 0.448 · 证据 2 条
- HNRNPA2B1 综合评分: 0.448 · 证据 2 条
- SRSF2 综合评分: 0.424 · 证据 1 条
- HNRNPC 综合评分: 0.412 · 证据 2 条
- RBFOX2 综合评分: 0.398 · 证据 2 条
- HNRNPK 综合评分: 0.362 · 证据 2 条
- HNRNPL 综合评分: 0.362 · 证据 2 条
- PTBP1 综合评分: 0.362 · 证据 2 条
- HNRNPM 综合评分: 0.350 · 证据 2 条
- MBNL1 综合评分: 0.350 · 证据 2 条
- PCBP2 综合评分: 0.324 · 证据 1 条
- PRPF8 综合评分: 0.324 · 证据 1 条
- RBM22 综合评分: 0.312 · 证据 2 条
- FUS 综合评分: 0.300 · 证据 1 条
- HNRNPU 综合评分: 0.300 · 证据 2 条
- KHSRP 综合评分: 0.300 · 证据 2 条
- SRSF3 综合评分: 0.300 · 证据 1 条
- fus 综合评分: 0.300 · 证据 1 条
- MATR3 综合评分: 0.298 · 证据 1 条
该基因暂无关联疾病记录