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Human Gene >> NF1 Details
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neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease) |
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Summary
| Gene Symbol test |
NF1 |
| Gene Name |
neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease) |
| Entrez GeneID |
4763 |
| UniProt ID |
P21359 |
| Chromosomal Location |
17q11.2 |
| Alternate Names |
Neurofibromin, WSS, NFNS, VRNF, DKFZp686J1293 |
| Function |
The encoded protein has Ras GTPase activity and appears to be a negative regulat or of cell proliferation. |
Relevance to autism
| Support for autism |
Seconday autism in a subset of individuals with Neurofibromatosis type I. |
| Genetic Category |
Syndromic autism |
| Number of studies |
3 |
| Number of positive association studies |
1 |
| Number of negative association studies |
2 |
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