Clinical resource with information about RAB28, Cone-rod dystrophy 18, Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years., Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population., and available tests.

Mar 30, 2025 · RAB28 (RAB28, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB28 include Cone-Rod Dystrophy 18 and Cone-Rod Dystrophy 2 . Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and Autophagy pathway .

Nov 9, 2018 · RAB28, a member of the RAS oncogene family, is a ubiquitous, farnesylated, small GTPase of unknown function present in photoreceptors and the retinal pigmented epithelium (RPE). Nonsense mutations of the human RAB28 gene cause recessive cone-rod dystrophy 18 (CRD18), characterized by macular …

Deleterious mutations in RAB28 result in a classic CRD phenotype and are an infrequent cause of CRD in the Spanish population. Autosomal-recessive cone-rod dystrophy is associated with RAB28 mutations. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)

RAB28, which encodes a member of the Rab subfamily of the RAS-related small GTPases, is a gene recently associated with autosomal recessive (ar) forms of CORDs [2, 3, 4, 5].

RAB28, a member of the RAS oncogene family, is a ubiquitous, farnesylated, small GTPase of unknown function present in photoreceptors and the retinal pigmented epithelium (RPE).

Sep 12, 2024 · Title: Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. Clinical trial of gene-disease association and gene-environment interaction.

Purpose: To gain an insight into the pathophysiology of RAB28- associated inherited retinal degeneration through detailed phenotyping and long-term longitudinal follow-up. Methods: The patient underwent complete ophthalmic examinations.

RAS-related GTPases, such as RAB28, are GTP-dependent switches that operate signaling pathways in cell growth, metabolism, and organelle trafficking (Brauers et al., 1996).

We identified Rab28 as a substrate for the GAP domains of both TBC1D1 and TBC1D4 in vitro. Rab28 is expressed in adipose cells and skeletal muscle, and its GTP-binding state is acutely regulated by insulin.