Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family

European Journal of Human Genetics

Volumn 10, Issue 4, 2002, Pages 281-284

  Stöhr, Heidi ^a   Marquardt, Andreas ^a   Nanda, Indrajit ^a   Schmid, Michael ^a   Weber, Bernhard H F ^a  

^a UNIVERSITY OF WÜRZBURG   (Germany)

Author keywords

Best vitelliform macular dystrophy; RFP TM protein family; VMD2

Indexed keywords

MEMBRANE PROTEIN; PEPTIDE; PROTEIN RFP TM; PROTEIN VMD2; UNCLASSIFIED DRUG;

AMINO TERMINAL SEQUENCE; ARTICLE; CAENORHABDITIS ELEGANS; CARBOXY TERMINAL SEQUENCE; CHROMOSOME 12Q; CHROMOSOME 19P; CHROMOSOME 1P; COLON; CONTROLLED STUDY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE EXPRESSION; GENE MUTATION; GENETIC CONSERVATION; GENETIC SIMILARITY; HUMAN; NUCLEOTIDE SEQUENCE; PIGMENT EPITHELIUM; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN DOMAIN; PROTEIN FAMILY; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PROTEIN MOTIF; RETINA MACULA VITELLIFORM DEGENERATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SKELETAL MUSCLE;

CAENORHABDITIS; CAENORHABDITIS ELEGANS;

EID: 0036077892     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200796     Document Type: Article

References (7)

1. Analysis of protein domain families in Caenorhabditis elegans
2. Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease)
3. Identification of the gene responsible for Best macular dystrophy
4. Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localises to the basolateral plasma membrane of the retinal pigment epithelium
5. Interstitial deletions of repetitive DNA blocks in dicentric human Y chromosomes
6. EST mining of the UniGene dataset to identify retina-specific genes