CABP4 Antibody – Rabbit Polyclonal

This gene encodes a member of the CABP family of calcium binding protein characterized by four EF-hand motifs. Mutations in this gene are associated with congenital stationary night blindness type 2B. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]

Function: Involved in normal synaptic function through regulation of Ca2+ influx and neurotransmitter release in photoreceptor synaptic terminals and in auditory transmission. Modulator of CACNA1D and CACNA1F, suppressing the calcium-dependent inactivation and shifting the activation range to more hyperpolarized voltages

By similarity.

Subunit structure: Interacts with CACNA1F and CACNA1D (via IQ domain) in a calcium independent manner

By similarity. Interacts (via N-terminus) with UNC119

By similarity.

Subcellular location: Cytoplasm. Note: Found in rod spherules and cone pedicles of the presynapses from both types of photoreceptors

By similarity. Ref.5

Tissue specificity: Expressed in retina and in the inner hair cells (IHC) of the cochlea.

Post-translational modification: Phosphorylated. Phosphorylation levels change with the light conditions and regulate the activity

By similarity.

Involvement in disease: Night blindness, congenital stationary, 2B (CSNB2B) [MIM:610427]: A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6

Sequence similarities: Contains 4 EF-hand domains.