NELL2
Description
The NELL2 (neural EGFL like 2) is a protein-coding gene located on chromosome 12.
NELL2 is an enzyme encoded by the NELL2 gene in humans. It is a cytoplasmic protein containing epidermal growth factor (EGF)-like repeats. NELL2 is a heterotrimeric protein potentially involved in cell growth regulation and differentiation. A similar protein in rodents is linked to craniosynostosis. An alternative splice variant exists, but its full sequence remains undetermined.
NELL2 is also known as NRP2.
Associated Diseases
- partial chromosome Y deletion
- male infertility with teratozoospermia due to single gene mutation
- congenital bilateral absence of vas deferens
- spermatogenic failures 50
- spermatogenic failure 63
- spermatogenic failure 25
- spermatogenic failure 61
- spermatogenic failure 74
- spermatogenic failure 73
- congenital bilateral aplasia of vas deferens from CFTR mutation
- isochromosomy Yp
- spermatogenic failure 26
- spermatogenic failure 31
- spermatogenic failure 48
- spermatogenic failure, X-linked, 2
