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Rabbit Anti-NF1/FITC Conjugated antibody
background:
This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [provided by RefSeq, Jul 2008].
Function:
Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity.
DISEASE:
Neurofibromatosis 1 (NF1) [MIM:16440]: A disease characterized by patches of skin pigmentation (cafe-au-lait spots), Lisch nodules of the iris, tumors in the peripheral nervous system and fibromatous skin tumors. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. Note=The disease is caused by mutations affecting the gene represented in this entry.
Leukemia, juvenile myelomonocytic (JMML) [MIM:607785]: An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages. Note=The disease is caused by mutations affecting the gene represented in this entry.
Watson syndrome (WS) [MIM:193520]: A syndrome characterized by the presence of pulmonary stenosis, cafe-au-lait spots, and mental retardation. It is considered as an atypical form of neurofibromatosis. Note=The disease is caused by mutations affecting the gene represented in this entry.
Familial spinal neurofibromatosis (FSNF) [MIM:162210]: Considered to be an alternative form of neurofibromatosis, showing multiple spinal tumors. Note=The disease is caused by mutations affecting the gene represented in this entry.
Neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321]: Characterized by manifestations of both NF1 and Noonan syndrome (NS). NS is a disorder characterized by dysmorphic facial features, short stature, hypertelorism, cardiac anomalies, deafness, motor delay, and a bleeding diathesis. Note=The disease is caused by mutations affecting the gene represented in this entry.
Colorectal cancer (CRC) [MIM:114500]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. Note=The gene represented in this entry may be involved in disease pathogenesis.
Similarity:
Contains 1 CRAL-TRIO domain.
Contains 1 Ras-GAP domain.
Database links:
Entrez Gene: 4763 Human
Entrez Gene: 3615 Mouse
Entrez Gene: 24592 Rat
Omim: 613113 Human
SwissProt: P21359 Human
SwissProt: Q04690 Mouse
SwissProt: P97526 Rat
Unigene: 113577 Human
Unigene: 255596 Mouse
Unigene: 10686 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
神经纤维素蛋白首先发现于神经细胞,是一种肿瘤抑制蛋白,通过调控Ras基因控制异常细胞生长,并且在cAMP信号传导通路中起调节作用.
神经纤维瘤Ⅰ型(neurofibromatosis type 1,NF1)是一种由内分泌紊乱引起的神经纤维瘤,属于常染色体显性遗传病,其发病率为1/3500,主要表现为咖啡斑、神经纤维瘤、Lisch结节(虹膜错构瘤)等。每3,500个新生儿中就有一个是神经纤维细胞瘤I型患者,其临床表现为表皮或皮下多发性神经纤维瘤,良性多于恶性,常沿神经干分布。有时,神经纤维瘤会长大,或者发展到脑和脊髓,大约有一半以上患者智力低下。
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