Results for "Nf1 Microdeletion Syndrome": 5 genes

Name

NF1 Gene

neurofibromin 1

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]

DEL3Q29 Gene

Chromosome 3q29 microdeletion syndrome

DELXQ28 Gene

Chromosome Xq28 microdeletion syndrome

DEL15Q13.3 Gene

Chromosome 15q13.3 microdeletion syndrome

DEL17Q21.31 Gene

Microdeletion 17q21.31 syndrome