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