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MCDR1 macular dystrophy, retinal, 1 (North Carolina type) [ Homo sapiens (human) ]

Gene ID: 4167, updated on 22-Jan-2023

Summary

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Gene symbol
MCDR1
Gene description
macular dystrophy, retinal, 1 (North Carolina type)
Primary source
MIM:136550
Gene type
unknown
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NCMD; CAPED

Genomic context

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Location:
6q14-q16.2

Bibliography

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Related articles in PubMed

  1. Modern diagnostic and therapeutic approaches in familial maculopathy with reference to North Carolina macular dystrophy. Nekolova J, et al. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub, 2022 Dec. PMID 34158671
  2. North Carolina macular dystrophy and central areolar pigment epithelial dystrophy. One family, one disease. Small KW, et al. Arch Ophthalmol, 1992 Apr. PMID 1562260
  3. Genome sequencing identifies a non-coding variant in the MCDR1 locus as a cause of macular dystrophy. Ellingford JM, et al. Clin Exp Ophthalmol, 2017 Apr. PMID 27551809
  4. North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13. Small KW, et al. Ophthalmology, 2016 Jan. PMID 26507665, Free PMC Article

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Modern diagnostic and therapeutic approaches in familial maculopathy with reference to North Carolina macular dystrophy.
    Title: Modern diagnostic and therapeutic approaches in familial maculopathy with reference to North Carolina macular dystrophy.
  2. We have used whole genome sequencing to identify a non-coding variant associated with a North Carolina Macular Dystrophy
    Title: Genome sequencing identifies a non-coding variant in the MCDR1 locus as a cause of macular dystrophy.
  3. Five sequenced individuals with MCDR1-linked NCMD shared a haplotype of 14 rare variants spanning 1 Mb of the disease-causing allele
    Title: North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13.
Submit: New GeneRIF Correction

Phenotypes

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macular dystrophy, retinal, 1 (North Carolina type)

General gene information

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Property

  • phenotype only

Gene LinkOut

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Molecular Biology Databases