DISEASES

Disease-gene associations mined from literature

Literature associating CABP4 and cone-rod dystrophy

CABP4 [ENSP00000324960]

Calcium binding protein 4; Involved in normal synaptic function through regulation of Ca(2+) 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); EF-hand domain containing

Synonyms:  CABP4,  CABP4p,  hCABP4,  A0A024R5K4,  F5H3E8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM