Gene: PHACTR1

Alternate names for this Gene: EIEE70|RPEL|RPEL1|dJ257A7.2

Gene Summary: The protein encoded by this gene is a member of the phosphatase and actin regulator family of proteins. This family member can bind actin and regulate the reorganization of the actin cytoskeleton. It plays a role in tubule formation and in endothelial cell survival. Polymorphisms in this gene are associated with susceptibility to myocardial infarction, coronary artery disease and cervical artery dissection. Alternative splicing of this gene results in multiple transcript variants.

Gene is located in Chromosome: 6

Location in Chromosome : 6p24.1

Description of this Gene: phosphatase and actin regulator 1

Type of Gene: protein-coding

Gene: TBC1D7

Alternate names for this Gene: MGCPH|PIG51|TBC7

Gene 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.

Gene is located in Chromosome: 6

Location in Chromosome : 6p24.1

Description of this Gene: TBC1 domain family member 7

Type of Gene: protein-coding

Gene: TBC1D7-LOC100130357

Alternate names for this Gene: -

Gene Summary: This locus represents naturally occurring readthrough transcription between the neighboring TBC1D7 (TBC1 domain family member 7) gene and downstream uncharacterized LOC100130357 on chromosome 6. Readthrough transcripts may encode the same protein as TBC1 domain family member 7 or may be candidates for nonsense-mediated mRNA decay (NMD).

Gene is located in Chromosome: 6

Location in Chromosome : 6p24.1

Description of this Gene: TBC1D7-LOC100130357 readthrough

Type of Gene: protein-coding