Calcium binding protein 2, also known as CaBP2, is a protein that in humans is encoded by the CABP2 gene.
The CABP2 gene comprises 6 exons, spanning approximately 5 kb, and is situated on chromosome 11q13.1. [1]
CaBP2 contain a consensus sequence for N-terminal myristoylation, akin to members of the recoverin subfamily, and undergoes fatty acid acylation in vitro. [2]
CaBP2 involves in calcium signaling and regulation. Specifically, CaBP2 is known for its ability to bind calcium ions, acting as a calcium sensor within cells. [3] This interaction with calcium plays a crucial role in various cellular processes, including neurotransmitter release in neurons and modulation of ion channels. CaBP2 is found in the retina and plays a significant role in visual signal processing. It interacts with other proteins, including those involved in the phototransduction cascade, contributing to the regulation of calcium levels in response to light stimuli. [4] [5]
Moreover, The CaBP2 protein is highly expressed in the cochlea. [6] Non-syndromic autosomal recessive hearing impairment DFNB93, caused by defects in the CABP2 gene. Genetic defects in CABP2 may result in moderate to severe sensorineural hearing impairment. [7] [8]
As of 2021, CaBP2-related non-syndromic hearing impairment has been reported in only a few families worldwide, including those in Iran, Turkey, Pakistan, Italy, and Denmark. [9]
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