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BTHLM1B

Chr 21ADAR

collagen type VI alpha 2 chain

Also known as: BTHLM1, BTHLM1B, PP3610, UCMD1, UCMD1B

NCBI Gene: 1292 OMIM: 620725

This gene encodes an alpha chain of type VI collagen, a beaded filament collagen that organizes matrix components in connective tissues through binding extracellular matrix proteins via von Willebrand Factor type A domains. Mutations cause Bethlem myopathy, a relatively mild congenital muscular dystrophy characterized by joint contractures and progressive muscle weakness. The condition follows both autosomal dominant and autosomal recessive inheritance patterns.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM

This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]

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AD/AR1 OMIM phenotype

Clinical Summary— BTHLM1B

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Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/BTHLM1B?content-type=application/json&expand=1

gnomad: Error: Gene not found