Gene: COL11A2

Alternate names for this Gene: DFNA13|DFNB53|FBCG2|HKE5|OSMEDA|OSMEDB|PARP|STL3

Gene Summary: This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. It is located on chromosome 6 very close to but separate from the gene for retinoid X receptor beta. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Proteolytic processing of this type XI chain produces PARP, a proline/arginine-rich protein that is an amino terminal domain. Mutations in this gene are associated with type III Stickler syndrome, otospondylomegaepiphyseal dysplasia (OSMED syndrome), Weissenbacher-Zweymuller syndrome, autosomal dominant non-syndromic sensorineural type 13 deafness (DFNA13), and autosomal recessive non-syndromic sensorineural type 53 deafness (DFNB53). Alternative splicing results in multiple transcript variants. A related pseudogene is located nearby on chromosome 6.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.32

Description of this Gene: collagen type XI alpha 2 chain

Type of Gene: protein-coding

Gene: RXRB

Alternate names for this Gene: DAUDI6|H-2RIIBP|NR2B2|RCoR-1

Gene Summary: This gene encodes a member of the retinoid X receptor (RXR) family of nuclear receptors which are involved in mediating the effects of retinoic acid (RA). The encoded protein forms homodimers with the retinoic acid, thyroid hormone, and vitamin D receptors, increasing both DNA binding and transcriptional function on their respective response elements. This gene lies within the major histocompatibility complex (MHC) class II region on chromosome 6. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.32

Description of this Gene: retinoid X receptor beta

Type of Gene: protein-coding