RBCC Red Blood Cell Collection

RAB28_HUMAN

Source: PM19886704
PM23856902
Marked as 'Membrane associated protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: RAB28
Protein names and data: RAB28_HUMAN , Ras-related protein Rab-28; Flags: Precursor Lenght: 221 a.a.
Mass: 24841 Da
fasta formatted sequence
Disease: ( OMIM: 612994 615374 ) Cone-rod dystrophy 18 (CORD18) [MIM:615374]: A form of cone-rod dystrophy, an inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cell membrane; Lipid-anchor; Cytoplasmic side (Potential). Cytoplasm, cytoskeleton, cilium basal body. Note=Expressed in the basal body and ciliary rootlet of the photoreceptors (By similarity).
Tissue specificity: Isoform S is detected in most tissues investigated: cortex, liver, kidney, skeletal muscle, adipose tissue, testis, urothelium, lung, bone marrow and retinal pigment epithelium (RPE). Isoform L 2 is widely and abundantly expressed all tissues. Isoform 3 is highly expressed in heart, lung, bone marrow, retina, brain, and RPE.

Database cross-references

UniProt: P51157
Ensembl: ENST00000288723
Ensembl: ENST00000330852
Ensembl: ENST00000338176
MIM: 612994
MIM: 615374
neXtProt: NX_P51157
Antibodypedia: P51157 (may not find the protein thus also not any antibody)
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