SMAP1 (stromal membrane-associated protein 1)

6q13

SMAP1 is a GTPase-activating protein (GAP) for Arf6.
Vesicle formation requires clathrin, its adaptors, and an enzymatic activity. This is given by small GTPase ADP-ribosylation factors (Arf; there is six Arfs, Arf1, Arf3, Arf2/Arf4, Arf5 and Arf6). Arf switches between a GTP-bound active state (regulated by guanine-nucleotide exchange factor (GEF)) and a GDP-bound inactive state (regulated by GTPase-activating protein (GAP)).
Arf6/SMAP1 regulates the clathrin dependent endocytosis of vesicles from the plasma membrane and the recycling of endosome to the plasma membrane.

KMT2A (myeloid/lymphoid or mixed lineage leukemia)

11q23.3

transcriptional regulatory factor; MLL may have yin-yang functions though actions of MLL-N and MLL-C (e.g. desacetylation/acetylation); MLL-N acts as a transcriptional repressor; MLL can be associated with more than 30 proteins, including the core components of the SWI/SNF chromatin remodeling complex and the transcription complex TFIID. MLL binds promotors of HOX genes through acetylation and methylation of histones. MLL is a major regulator of hematopoesis and embryonic development, through regulation of HOX genes expression regulation ( HOXA9 in particular).