Gene: TFR2

Alternate names for this Gene: HFE3|TFRC2

Gene Summary: This gene encodes a single-pass type II membrane protein, which is a member of the transferrin receptor-like family. This protein mediates cellular uptake of transferrin-bound iron, and may be involved in iron metabolism, hepatocyte function and erythrocyte differentiation. Mutations in this gene have been associated with hereditary hemochromatosis type III. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.

Gene is located in Chromosome: 7

Location in Chromosome : 7q22.1

Description of this Gene: transferrin receptor 2

Type of Gene: protein-coding

Gene: ACTL6B

Alternate names for this Gene: ACTL6|BAF53B|EIEE76|IDDSSAD|arpNalpha

Gene Summary: The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene encodes a subunit of the BAF (BRG1/brm-associated factor) complex in mammals, which is functionally related to SWI/SNF complex in S. cerevisiae and Drosophila; the latter is thought to facilitate transcriptional activation of specific genes by antagonizing chromatin-mediated transcriptional repression. This subunit may be involved in the regulation of genes by structural modulation of their chromatin, specifically in the brain. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 7

Location in Chromosome : 7q22.1

Description of this Gene: actin like 6B

Type of Gene: protein-coding