CENTG2

Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1 is an is_associated_with::enzyme that in humans is encoded by the AGAP1 is_associated_with::gene.

Function
CENTG2 belongs to an ADP-ribosylation factor GTPase-activating (ARF-GAP) protein family involved in membrane traffic and actin cytoskeleton dynamics (Nie et al., 2002).[supplied by OMIM]

HACNS1
HACNS1 is located in an intron of the gene CENTG2 (also known as Human Accelerated Region 2). HACNS1 is hypothesized to be a gene enhancer "that may have contributed to the evolution of the uniquely opposable is_associated_with::human is_associated_with::thumb, and possibly also modifications in the is_associated_with::ankle or is_associated_with::foot that allow humans to is_associated_with::walk on two legs". Evidence to date shows that of the 110,000 gene enhancer sequences identified in the human is_associated_with::genome, HACNS1 has undergone the most change during the is_associated_with::evolution of humans following the split with the ancestors of is_associated_with::chimpanzees.

Model organisms
is_associated_with::Model organisms have been used in the study of AGAP1 function. A conditional is_associated_with::knockout mouse line called Agap1tm1a(EUCOMM)Wtsi was generated at the is_associated_with::Wellcome Trust Sanger Institute. Male and female animals underwent a standardized is_associated_with::phenotypic screen to determine the effects of deletion. Additional screens performed: - In-depth immunological phenotyping - in-depth bone and cartilage phenotyping

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