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This gene encodes the pulmonary-associated surfactant protein C (SPC), an extremely hydrophobic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a surface-active lipoprotein complex composed of 90% lipids and 10% proteins which include plasma proteins and apolipoproteins SPA, SPB, SPC and SPD. The surfactant is secreted by the alveolar cells of the lung and maintains the stability of pulmonary tissue by reducing the surface tension of flui

缺氧誘導(dǎo)因子1Alpha不僅對(duì)于機(jī)體在缺氧條件下維持正常的生理功能具有特別重要的意義,并在腫瘤的生長(zhǎng)以及神經(jīng)細(xì)胞凋亡等病理過(guò)程中起重要作用. HIF1 alpha能調(diào)節(jié)許多下游基因的表達(dá)水平. 哺乳動(dòng)物細(xì)胞在低氧壓力條件下出現(xiàn)HIF。HIF是一種轉(zhuǎn)錄因子，對(duì)細(xì)胞的缺氧起穩(wěn)定作用。

This gene encodes a protein that belongs to the type I cytokine receptor family. This protein combines with a high-affinity converter subunit, gp130, to form a receptor complex that mediates the action of the leukemia inhibitory factor, a polyfunctional cytokine that is involved in cellular differentiation, proliferation and survival in the adult and the embryo. Mutations in this gene cause Schwartz-Jampel syndrome type 2, a disease belonging to the group of the bent-bone dysplasias. A transl

The Hox proteins play a role in development and cellular differentiation by regulating downstream target genes. Specifically, the Hox proteins direct DNA-protein and protein-protein interactions that assist in determining the morphologic features associated with the anterior-posterior body axis. The mammalian HOX gene complex consists of 39 genes that are located on four linkage groups, which are dispersed over four chromosomes. HOX genes that occupy the same relative position along the 5’ t

ATF4 is a transcription factor that was originally identified as a widely expressed mammalian DNA binding protein that could bind a tax-responsive enhancer element in the LTR of HTLV1. The encoded protein was also isolated and characterized as the cAMP-response element binding protein 2 (CREB2). The protein encoded by this gene belongs to a family of DNA-binding proteins that includes the AP1 family of transcription factors, cAMP-response element binding proteins (CREBs) and CREB-like protein

The protein encoded by this gene is a proton-linked monocarboxylate transporter that catalyzes the movement of many monocarboxylates, such as lactate and pyruvate, across the plasma membrane. Mutations in this gene are associated with erythrocyte lactate transporter defect. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2009]