TBC1D7, Official Symbol TBC1D7provided by HGNC Official Full Name TBC1 domain family member 7provided by HGNC Primary source HGNC:HGNC:21066 See related Ensembl:ENSG00000145979 MIM:612655; AllianceGenome:HGNC:21066 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TBC7; MGCPH; PIG51 Summary 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] Expression Ubiquitous expression in heart (RPKM 3.4), testis (RPKM 2.6) and 25 other tissues See more Orthologs mouse all