C190133Level 4
MARVELD2 wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human MARVELD2 wild-type allele is located in the vicinity of 5q13.2 and is approximately 29 kb in length. This allele, which encodes MARVEL domain-containing protein 2, is involved in tricellular tight junction formation. Mutation of the gene is associated with autosomal recessive deafness 49.
**Synonyms:** - DFNB49 - Deafness, Autosomal Recessive 49 Gene - FLJ30532 - MARVD2 - MARVEL (Membrane-Associating) Domain Containing 2 Gene - MARVEL Domain Containing 2 wt Allele - MRVLDC2 - TRIC - Tric
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Cross-system equivalences0
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