From NCBI Gene: Warburg micro syndrome 1From UniProt: Warburg micro syndrome 1 (WARBM1): A rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism. [MIM:600118]

     From NCBI Gene: This gene encodes the catalytic subunit of a Rab GTPase activating protein. The encoded protein forms a heterodimer with a non-catalytic subunit to specifically regulate the activity of members of the Rab3 subfamily of small G proteins. This protein mediates the hydrolysis of GTP bound Rab3 to the GDP bound form. Mutations in this gene are associated with Warburg micro syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010] From UniProt: Probable catalytic subunit of a GTPase activating protein that has specificity for Rab3 subfamily (RAB3A, RAB3B, RAB3C and RAB3D). Rab3 proteins are involved in regulated exocytosis of neurotransmitters and hormones. Specifically converts active Rab3-GTP to the inactive form Rab3-GDP. Required for normal eye and brain development. May participate in neurodevelopmental processes such as proliferation, migration and differentiation before synapse formation, and non-synaptic vesicular release of neurotransmitters.

The following transcription factors affect gene expression:

• FOXO3
• FOXO3a
• ARP-1
• E2F-1
• Ik-1

Tissue specificity:

Ubiquitous.

Molecular Function:

• Gtpase Activator Activity
• Guanyl-Nucleotide Exchange Factor Activity
• Rab Gtpase Binding

Biological Processes:

• Brain Development
• Camera-Type Eye Development
• Establishment Of Protein Localization To Endoplasmic Reticulum Membrane
• Excitatory Postsynaptic Potential
• Face Morphogenesis
• Hypothalamus Development
• Lipid Particle Organization
• Positive Regulation Of Autophagosome Assembly
• Positive Regulation Of Endoplasmic Reticulum Tubular Network Organization
• Positive Regulation Of Gene Expression
• Positive Regulation Of Glutamate Neurotransmitter Secretion In Response To Membrane Depolarization
• Positive Regulation Of Gtpase Activity
• Positive Regulation Of Protein Lipidation
• Regulation Of Calcium Ion-Dependent Exocytosis Of Neurotransmitter
• Regulation Of Gtpase Activity
• Regulation Of Short-Term Neuronal Synaptic Plasticity