RCBTB1

This gene encodes a protein with an N-terminal RCC1 domain and a C-terminal BTB (broad complex, tramtrack and bric-a-brac) domain. In rat, over-expression of this gene in vascular smooth muscle cells induced cellular hypertrophy. In rat, the C-terminus of RCBTB1 interacts with the angiotensin II receptor-1A. In humans, this gene maps to a region of chromosome 13q that is frequently deleted in B-cell chronic lymphocytic leukemia and other lymphoid malignancies. [provided by RefSeq]

Full Name

regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1

Function

May be involved in cell cycle regulation by chromatin remodeling.

Biological Process

Biological Process cell cycleIEA:UniProtKB-KW
Biological Process chromatin organizationIEA:UniProtKB-KW

Cellular Location

Nucleus

Involvement in disease

Retinal dystrophy with or without extraocular anomalies (RDEOA):
An autosomal recessive disease characterized by progressive retinal dystrophy, chorioretinal macular atrophy, reduced cone and rod responses on ERG, and decrease visual acuity. Extraocular anomalies are variably present in some patients and include pulmonary fibrosis, sensorineural hearing loss, and endocrine features such as goiter and primary ovarian insufficiency.