Gene: RAB3GAP2

Alternate names for this Gene: RAB3-GAP150|RAB3GAP150|SPG69|WARBM2|p150

Gene Summary: The protein encoded by this gene belongs to the RAB3 protein family, members of which are involved in regulated exocytosis of neurotransmitters and hormones. This protein forms the Rab3 GTPase-activating complex with RAB3GAP1, where it constitutes the regulatory subunit, whereas the latter functions as the catalytic subunit. This gene has the highest level of expression in the brain, consistent with it having a key role in neurodevelopment. Mutations in this gene are associated with Martsolf syndrome.

Gene is located in Chromosome: 1

Location in Chromosome : 1q41

Description of this Gene: RAB3 GTPase activating non-catalytic protein subunit 2

Type of Gene: protein-coding

Gene: SNORA36B

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: MIR664A

Alternate names for this Gene: MIR664|MIRN664|hsa-mir-664|hsa-mir-664a|mir-664a

Gene Summary: microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop.

Gene is located in Chromosome: 1

Location in Chromosome : 1q41

Description of this Gene: microRNA 664a

Type of Gene: ncRNA

rs797045103 in RAB3GAP2;SNORA36B;MIR664A gene and WARBURG MICRO SYNDROME 2 PMID 23420520 2013 Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.