Gene: CERKL
Alternate names for this Gene: RP26
Gene Summary: This gene was initially identified as a locus (RP26) associated with an autosomal recessive form of retinitis pigmentosa (arRP) disease. This gene encodes a protein with ceramide kinase-like domains, however, the protein does not phosphorylate ceramide and its target substrate is currently unknown. This protein may be a negative regulator of apoptosis in photoreceptor cells. Mutations in this gene cause a form of retinitis pigmentosa characterized by autosomal recessive cone and rod dystrophy (arCRD). Alternative splicing of this gene results in multiple transcript variants encoding different isoforms and non-coding transcripts.
Gene is located in Chromosome: 2
Location in Chromosome : 2q31.3
Description of this Gene: ceramide kinase like
Type of Gene: protein-coding
Gene: NEUROD1
Alternate names for this Gene: BETA2|BHF-1|MODY6|NEUROD|T2D|bHLHa3
Gene Summary: This gene encodes a member of the NeuroD family of basic helix-loop-helix (bHLH) transcription factors. The protein forms heterodimers with other bHLH proteins and activates transcription of genes that contain a specific DNA sequence known as the E-box. It regulates expression of the insulin gene, and mutations in this gene result in type II diabetes mellitus.
Gene is located in Chromosome: 2
Location in Chromosome : 2q31.3
Description of this Gene: neuronal differentiation 1
Type of Gene: protein-coding