RCBTB1 gene

RCC1 and BTB domain containing protein 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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, Jul 2008]

From UniProt:

May be involved in cell cycle regulation by chromatin remodeling.

From NCBI Gene:

  • RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES
  • Alcohol dependence

From UniProt:

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. [MIM:617175]

Cytogenetic Location: 13q14.2, which is the long (q) arm of chromosome 13 at position 14.2

Molecular Location: base pairs 49,531,944 to 49,585,606 on chromosome 13 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 13q14.2, which is the long (q) arm of chromosome 13 at position 14.2
  • CLLD7
  • CLLL7
  • GLP
  • RDEOA