Gene: LOC101448202

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: COL5A1

Alternate names for this Gene: EDSC|EDSCL1

Gene Summary: This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. The encoded procollagen protein occurs commonly as the heterotrimer pro-alpha1(V)-pro-alpha1(V)-pro-alpha2(V). Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. Alternative splicing of this gene results in multiple transcript variants.

Gene is located in Chromosome: 9

Location in Chromosome : 9q34.3

Description of this Gene: collagen type V alpha 1 chain

Type of Gene: protein-coding

rs80338764 in LOC101448202;COL5A1 gene and EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 PMID 18972565 2009 COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome.

PMID 15580559 2005 The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients.

PMID 10602121 2000 Compound heterozygosity for a disease-causing G1489E [corrected] and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability?

PMID 11992482 2002 Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome.

PMID 9042913 1997 Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II.

rs1564482508 in LOC101448202;COL5A1 gene and EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 PMID 23587214 2013 Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations.