Tenascin XB

Alternative Names

  • TNXB
  • Tenascin X
  • TNX
  • Hexabrachion-Like
  • HXBL
  • Tenascin XB, Isoform 1
  • TNXB1
  • Tenascin XB, Isoform 2
  • TNXB2
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OMIM Number

600985

NCBI Gene ID

7148

Uniprot ID

P22105

Length

68,186 bases

No. of Exons

44

No. of isoforms

4

Protein Name

Tenascin-X

Molecular Mass

458388 Da

Amino Acid Count

4244

Genomic Location

chr6:32,041,152-32,109,337

Gene Map Locus
6p21.33-p21.32

Description

This gene encodes a member of the tenascin family of extracellular matrix glycoproteins. The tenascins have anti-adhesive effects, as opposed to fibronectin which is adhesive. This protein is thought to function in matrix maturation during wound healing, and its deficiency has been associated with the connective tissue disorder Ehlers-Danlos syndrome. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. It is one of four genes in this cluster which have been duplicated. The duplicated copy of this gene is incomplete and is a pseudogene which is transcribed but does not encode a protein. The structure of this gene is unusual in that it overlaps the CREBL1 and CYP21A2 genes at its 5' and 3' ends, respectively. Multiple transcript variants encoding different isoforms have been found for this gene. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_001365276.2:c.11381-?_11524+?delUnited Arab EmiratesEhlers-Danlos Syndrome, Classic-LikeNM_001365276.2:c.11381-?_11524+?del
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