TBC1D7

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]

Description

TBC1 domain family member 7

Tissue specificity

Low tissue specificity

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

6 (13266542 - 13328583)

Ensembl ID

ENSG00000145979  (ver. 103.38)

Orthologs

Mouse Tbc1d7: ENSMUSG00000021368

UniProt

Q9P0N9

neXtProt

NX_Q9P0N9

Human splice variants
Mouse splice variants

Protein structure