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

rs104893649 in CERKL;NEUROD1 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 10545951 1999 Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus.

PMID 23492873 2013 Recommendations from the EGAPP Working Group: does genomic profiling to assess type 2 diabetes risk improve health outcomes?

PMID 22962670 2012 Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline.

rs763092306 in CERKL;NEUROD1 gene and Glycosuria PMID 30476138 2019 Sequence variants associating with urinary biomarkers.

rs763092306 in CERKL;NEUROD1 gene and MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6 (disorder) PMID 26773576 2016 A family with the Arg103Pro mutation in the NEUROD1 gene detected by next-generation sequencing - Clinical characteristics of mutation carriers.

PMID 11719843 2001 MODY in Iceland is associated with mutations in HNF-1alpha and a novel mutation in NeuroD1.

PMID 10545951 1999 Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus.