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MGCPH
Chr 6ARTBC1 domain family member 7
Also known as: MGCPH, PIG51, TBC7
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]
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/MGCPH?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MGCPH · protein map & ClinVar variants
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External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
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