RABL2B

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Description

The RABL2B (RAB, member of RAS oncogene family like 2B) is a protein-coding gene located on chromosome 22.

RABL2B is a small GTPase essential for the formation of cilia. It doesn't rely on guanine nucleotide exchange factors (GEFs) to activate; instead, it directly exchanges GDP for GTP. RABL2B plays a key role in ciliary assembly by binding to the intraflagellar transport (IFT) complex B, which is positioned at the base of the cilium. This binding triggers the entry of the IFT complex into the cilia, contributing to the growth and structure of these cellular appendages.

RABL2B is also known as -.

Associated Diseases

• male infertility with teratozoospermia due to single gene mutation
• partial chromosome Y deletion
• spermatogenic failure 63
• spermatogenic failure 10
• spermatogenic failure 11
• spermatogenic failure 47
• spermatogenic failure 40
• spermatogenic failure 7
• spermatogenic failure, X-linked, 3
• spermatogenic failure 65
• spermatogenic failure 41
• spermatogenic failure 39
• spermatogenic failure 43
• spermatogenic failure 19
• spermatogenic failure 45
• spermatogenic failure 49
• spermatogenic failure 18
• spermatogenic failure 27
• spermatogenic failure 46
• spermatogenic failure 72
• spermatogenic failure 70
• spermatogenic failure 25