2025年3月30日 · INPPL1 (Inositol Polyphosphate Phosphatase Like 1) is a Protein Coding gene. Diseases associated with INPPL1 include Opsismodysplasia and Schneckenbecken Dysplasia. Among its related pathways are Interleukin-2 family signaling and superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism.

SH2-domain containing Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase 2 is an enzyme that in humans is encoded by the INPPL1 gene. [5] [6] INPPL1 encodes inositol polyphosphate-5 phosphatase-like 1, a protein that in addition to the phosphatase domain contains an SH2 (src-homology domain 2) motif. [6]

2016年10月6日 · Recently, it was reported that mutations in INPPL1 cause opsismodysplasia, a rare, autosomal recessive severe skeletal dysplasia. This review focuses on the mutations associated with...

INPPL1 is the disease gene for opsismodysplasia; opsismodysplasia has genetic heterogeneity. INPPL1 mutations in OPS, a severe spondylodysplastic dysplasia with major growth plate disorganization, supports a key and specific role of this enzyme in endochondral ossification.

In activated spreading platelets, localizes with actin at filopodia, lamellipodia and the central actin ring. Genetic variations in INPPL1 may be a cause of susceptibility to metabolic syndrome. Metabolic syndrome is characterized by diabetes, insulin resistance, hypertension, and hypertriglyceridemia is absent.

该基因编码的蛋白质是一种含有 SH2 的 5'-肌醇磷酸酶，参与胰岛素功能的调节。 编码的蛋白质还在表皮生长因子受体更新和肌动蛋白重塑的调节中发挥作用。 此外，该基因支持乳腺癌的转移性生长，是一种有价值的乳腺癌生物标志物。 [RefSeq 提供，2009 年 1 月] The protein encoded by this gene is an SH2-containing 5'-inositol Phosphatase that is …

2024年3月5日 · The protein encoded by this gene is an SH2-containing 5'-inositol phosphatase that is involved in the regulation of insulin function. The encoded protein also plays a role in the regulation of epidermal growth factor receptor turnover and actin remodelling.

2025年2月8日 · Predicted to enable SH2 domain binding activity; inositol-polyphosphate 5-phosphatase activity; and phosphatidylinositol-3,4,5-trisphosphate binding activity. Acts upstream of or within several processes, including intracellular signaling cassette; response to insulin; and ruffle assembly. Located in cytoplasm and plasma membrane.

Inositol polyphosphate phosphatase‐like 1 (INPPL1, also known as SHIP2) is a member of the inositol polyphosphatase 5‐phosphatase family, and is expressed in a wide range of tissues. 1 INPPL1 has been reported to play a critical role as a negative regulator of insulin signalling, by inhibiting phosphoinositide 3‐kinase through ...

这个基因编码的蛋白质是一个含有SH2的5'-肌醇磷酸酶，参与胰岛素功能的调节。 编码的蛋白质也在表皮生长因子受体衰减和肌动蛋白重塑的调节中发挥作用。 此外，这个基因支持乳腺癌的转移性生长，并且是乳腺癌的有价值的生物标志物。 [由RefSeq，2009年1月提供] The protein encoded by this gene is an SH2-containing 5'-inositol phosphatase that is involved in the regulation of insulin function.