基因名:
SEMA5A
产品别名:
SEMAF; semF; SEMA5A; semaphorin 5A; semaphorin 5A; semaphorin-5A; sema F; sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A; semaphorin F; 信号素5A(SEMA5A); 跨膜蛋白SEMA5A;
背景信息:
Semaphorin-5A (SEMA5A) is a member of the Semaphorin family of axon guidance molecules. SEMA5A is a 140 kDa protein. Class 5 Semaphorins are type I transmembrane glycoproteins with an N- terminal Sema domain and multiple juxtamembrane type 1 Thrombospondin (TSP) repeats within their extracellular domains. SEMA5A is expressed in neuroepithelial cells surrounding retinal axons, oligodendrocytes, the base of limb buds, the mesoderm surrounding cranial vessels , and the cardiac atrial septum and endocardial cushions, Human SEMA5A cDNA encodes a signal sequence, a extracellular domain (ECD), a transmembrane sequence and an cytoplasmic portion. SEMA5A mutations have been implicated in the genetic syndrome,cri-du-chat,while some polymorphisms may increase risk for neurodegenerative diseases such as Parkinson. The expression of SEMA5A may be upregulated in metastatic cancer cells and downregulated in autism.