Gene: RASGRP2

Alternate names for this Gene: CALDAG-GEFI|CDC25L

Gene Summary: The protein encoded by this gene is a brain-enriched nucleotide exchanged factor that contains an N-terminal GEF domain, 2 tandem repeats of EF-hand calcium-binding motifs, and a C-terminal diacylglycerol/phorbol ester-binding domain. This protein can activate small GTPases, including RAS and RAP1/RAS3. The nucleotide exchange activity of this protein can be stimulated by calcium and diacylglycerol. Four alternatively spliced transcript variants encoding two different isoforms have been found for this gene.

Gene is located in Chromosome: 11

Location in Chromosome : 11q13.1

Description of this Gene: RAS guanyl releasing protein 2

Type of Gene: protein-coding

Gene: PYGM

Alternate names for this Gene: GSD5

Gene Summary: This gene encodes a muscle enzyme involved in glycogenolysis. Highly similar enzymes encoded by different genes are found in liver and brain. Mutations in this gene are associated with McArdle disease (myophosphorylase deficiency), a glycogen storage disease of muscle. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 11

Location in Chromosome : 11q13.1

Description of this Gene: glycogen phosphorylase, muscle associated

Type of Gene: protein-coding