RCBTB2
Description
The RCBTB2 (RCC1 and BTB domain containing protein 2) is a protein-coding gene located on chromosome 13.
RCC1 and BTB domain-containing protein 2 is a protein that in humans is encoded by the RCBTB2 gene. This gene encodes a member of the RCC1-related GEF family. The N-terminal half of the encoded amino acid sequence shows similarity to the regulator of chromosome condensation RCC1, which acts as a guanine nucleotide exchange factor (GEF) protein for the Ras-related GTPase Ran.
RCBTB2 is also known as CHC1L, RLG.
Associated Diseases
- erythroleukemia, familial, susceptibility to
- myofibromatosis, infantile, 1
- Li-Fraumeni syndrome
- familial atypical multiple mole melanoma syndrome
- immunodeficiency 75
- hereditary neutrophilia
- severe combined immunodeficiency due to CD70 deficiency
- combined immunodeficiency due to OX40 deficiency
- attenuated familial adenomatous polyposis
- familial papillary thyroid carcinoma with renal papillary neoplasia
