This gene encodes a member of the TBC-domain containing protein family. The encoded protein functions as a subunit of the tuberous sclerosis TSC1-TSC2 complex which plays a role in the regulation of cellular growth and differentiation. Mutations in this gene have been associated with autosomal recessive megalencephaly. Alternative splicing results in multiple transcript variants. Naturally occurring readthrough transcription occurs between this locus and downstream LOC100130357. [provided by RefSeq, Jan 2016]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| TBC1D7-20-RE | 20 (40 μL) | 200 μL |  |
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| TBC1D7-20-OR | 20 (40 μL) | 200 μL |  |
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| TBC1D7-20-GO | 20 (40 μL) | 200 μL |  |
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| TBC1D7-20-GR | 20 (40 μL) | 200 μL |  |
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| TBC1D7-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene encodes a member of the TBC-domain containing protein family. The encoded protein functions as a subunit of the tuberous sclerosis TSC1-TSC2 complex which plays a role in the regulation of cellular growth and differentiation. Mutations in this gene have been associated with autosomal recessive megalencephaly. Alternative splicing results in multiple transcript variants. Naturally occurring readthrough transcription occurs between this locus and downstream LOC100130357. [provided by RefSeq, Jan 2016]
Gene Symbol : TBC1D7
Gene Name : TBC1 domain family member 7
Chromosome : CHR 6: 133,285,82-133,049,50
Locus : 6p24.1
Alt. Genes : FAM13A
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