Gene: COL7A1

Alternate names for this Gene: EBD1|EBDCT|EBR1|NDNC8

Gene Summary: This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen.

Gene is located in Chromosome: 3

Location in Chromosome : 3p21.31

Description of this Gene: collagen type VII alpha 1 chain

Type of Gene: protein-coding

Gene: MIR711

Alternate names for this Gene: hsa-mir-711

Gene Summary: microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop.

Gene is located in Chromosome: 3

Location in Chromosome : 3p21.31

Description of this Gene: microRNA 711

Type of Gene: ncRNA

rs1057517723 in COL7A1;MIR711 gene and Epidermolysis Bullosa Dystrophica PMID 19681861 2009 Forty-two novel COL7A1 mutations and the role of a frequent single nucleotide polymorphism in the MMP1 promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort.

PMID 27899325 2017 Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages.

PMID 16439963 2006 Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population.

rs1439299333 in COL7A1;MIR711 gene and Hallopeau-Siemens Disease PMID 10084325 1999 Clustering of COL7A1 mutations in exon 73: implications for mutation analysis in dystrophic epidermolysis bullosa.

PMID 12787275 2003 Dystrophic epidermolysis bullosa inversa with COL7A1 mutations and absence of GDA-J/F3 protein.

PMID 8592061 1996 Molecular basis of recessive dystrophic epidermolysis bullosa: genotype/phenotype correlation in a case of moderate clinical severity.

PMID 8618018 1996 Influence of the second COL7A1 mutation in determining the phenotypic severity of recessive dystrophic epidermolysis bullosa.

PMID 9804332 1998 Compound heterozygosity for a recessive glycine substitution and a splice site mutation in the COL7A1 gene causes an unusually mild form of localized recessive dystrophic epidermolysis bullosa.

PMID 9740253 1998 Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa.

PMID 9215684 1997 Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene.

PMID 20598510 2010 Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations.

PMID 10620140 2000 Combination of novel premature termination codon and glycine substitution mutations in COL7A1 leads to moderately severe recessive dystrophic epidermolysis bullosa.

PMID 9444387 1997 Identification of a glycine substitution and a splice site mutation in the type VII collagen gene in a proband with mitis recessive dystrophic epidermolysis bullosa.

PMID 9326325 1997 Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.

PMID 8513326 1993 A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa.

PMID 8757758 1996 Clinicopathological correlations of compound heterozygous COL7A1 mutations in recessive dystrophic epidermolysis bullosa.

PMID 11167698 2001 Generalized dystrophic epidermolysis bullosa: identification of a novel, homozygous glycine substitution, G2031S, in exon 73 of COL7A1 in monozygous triplets.

rs121912841 in COL7A1;MIR711 gene and TOENAIL DYSTROPHY, ISOLATED PMID 11843659 2002 Toenail dystrophy with COL7A1 glycine substitution mutations segregates as an autosomal dominant trait in 2 families with dystrophic epidermolysis bullosa.