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The nuclear and non-nuclear NELF variant transcripts and proteins were identified, explaining variable NELF cellular localization.
a model in which NELF recruits Pcf11 and NCoR1-GPS2-HDAC3 to paused RNAP II, reinforcing repression of HIV transcription and establishing a critical checkpoint for HIV transcription and latency.
NELF is associated with normosmic idiopathic hypogonadotropic hypogonadism and Kallmann syndrome, either singly or in combination with a mutation in another gene.
our findings implicate NELF as a nuclear protein involved in the developmental function of the reproductive axis.
12% of Kallman syndrome males have KAL1 deletions, but intragenic deletions of the FGFR1, GNRH1, GNRHR, GPR54 and NELF genes are uncommon in Idiopathic hypogonadotropic hypogonadism/Kallman syndrome.
The protein encoded by this gene is involved in guidance of olfactory axon projections and migration of luteinizing hormone-releasing hormone neurons. Defects in this gene are a cause of idiopathic hypogonadotropic hypogonadism (IHH). Several transcript variants encoding different isoforms have been found for this gene.
nasal embryonic LHRH factor
, nasal embryonic luteinizing hormone-releasing hormone factor