SMAP2
Description
The SMAP2 (small ArfGAP2) is a protein-coding gene located on chromosome 1.
SMAP2 acts as a GTPase activating protein (GAP) for ARF1, a protein involved in vesicle trafficking. It can also activate ARF6 in vitro. SMAP2 may be involved in the retrograde transport of vesicles from early endosomes back to the trans-Golgi network, a process that requires clathrin.
SMAP2 is also known as SMAP1L.
Associated Diseases
- male infertility with teratozoospermia due to single gene mutation
- partial chromosome Y deletion
- spermatogenic failure 42
- spermatogenic failure 72
- spermatogenic failure 65
- spermatogenic failure 18
- spermatogenic failure 46
- spermatogenic failure 27
- spermatogenic failure 45
- spermatogenic failure 49
- spermatogenic failure 19
- spermatogenic failure 43
- spermatogenic failure 39
- deafness-infertility syndrome
- spermatogenic failure, X-linked, 3
