BCL7B

The protein encoded by this gene contains a region that is highly similar to the N-terminal segment of BCL7A protein. The BCL7A protein is encoded by the gene known to be directly involved in a three-way gene translocation in a Burkitt lymphoma cell line. This gene is located at a chromosomal region commonly deleted in Williams syndrome. The function of this gene has not yet been determined. [provided by RefSeq]

Full Name

B-cell CLL/lymphoma 7B

Function

Positive regulator of apoptosis. Plays a role in the Wnt signaling pathway, negatively regulating the expression of Wnt signaling components CTNNB1 and HMGA1 (PubMed:25569233).
Involved in cell cycle progression, maintenance of the nuclear structure and stem cell differentiation (PubMed:25569233).
May play a role in lung tumor development or progression (By similarity).

Biological Process

Apoptotic process Source: UniProtKB-KW
Cell differentiation Source: UniProtKB-KW
Wnt signaling pathway Source: UniProtKB-KW

Involvement in disease

BCL7B is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of BCL7B may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.