Gene: MTCP1

Alternate names for this Gene: P13MTCP1|TCL1C|p8MTCP1

Gene Summary: This gene was identified by involvement in some t(X;14) translocations associated with mature T-cell proliferations. This region has a complex gene structure, with a common promoter and 5' exon spliced to two different sets of 3' exons that encode two different proteins. This gene represents the upstream 13 kDa protein that is a member of the TCL1 family. This protein may be involved in leukemogenesis.

Gene is located in Chromosome: X

Location in Chromosome : Xq28

Description of this Gene: mature T cell proliferation 1

Type of Gene: protein-coding

Gene: BRCC3

Alternate names for this Gene: BRCC36|C6.1A|CXorf53

Gene Summary: This gene encodes a subunit of the BRCA1-BRCA2-containing complex (BRCC), which is an E3 ubiquitin ligase. This complex plays a role in the DNA damage response, where it is responsible for the stable accumulation of BRCA1 at DNA break sites. The component encoded by this gene can specifically cleave Lys 63-linked polyubiquitin chains, and it regulates the abundance of these polyubiquitin chains in chromatin. The loss of this gene results in abnormal angiogenesis and is associated with syndromic moyamoya, a cerebrovascular angiopathy. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 5.

Gene is located in Chromosome: X

Location in Chromosome : Xq28

Description of this Gene: BRCA1/BRCA2-containing complex subunit 3

Type of Gene: protein-coding

rs7051718 in MTCP1;BRCC3 gene and Venous Thromboembolism PMID 31676865 2019 Genome-wide association analysis of venous thromboembolism identifies new risk loci and genetic overlap with arterial vascular disease.