Gene: DYNLRB1

Alternate names for this Gene: BITH|BLP|DNCL2A|DNLC2A|ROBLD1

Gene Summary: This gene is a member of the roadblock dynein light chain family. The encoded cytoplasmic protein is capable of binding intermediate chain proteins, interacts with transforming growth factor-beta, and has been implicated in the regulation of actin modulating proteins. Upregulation of this gene has been associated with hepatocellular carcinomas, suggesting that this gene may be involved in tumor progression. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 12 and 18.

Gene is located in Chromosome: 20

Location in Chromosome : 20q11.22

Description of this Gene: dynein light chain roadblock-type 1

Type of Gene: protein-coding

Gene: ITCH

Alternate names for this Gene: ADMFD|AIF4|AIP4|NAPP1

Gene Summary: This gene encodes a member of the Nedd4 family of HECT domain E3 ubiquitin ligases. HECT domain E3 ubiquitin ligases transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein substrates, thus targeting specific proteins for lysosomal degradation. The encoded protein plays a role in multiple cellular processes including erythroid and lymphoid cell differentiation and the regulation of immune responses. Mutations in this gene are a cause of syndromic multisystem autoimmune disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

Gene is located in Chromosome: 20

Location in Chromosome : 20q11.22

Description of this Gene: itchy E3 ubiquitin protein ligase

Type of Gene: protein-coding