RCBTB2

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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