Collagen, Type XVII, Alpha-1

Alternative Names

  • COL17A1
  • Bullous Pemphigoid Antigen 2
  • BPAG2
  • BP180
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OMIM Number

113811

NCBI Gene ID

1308

Uniprot ID

Q9UMD9

Length

54,595 bases

No. of Exons

56

No. of isoforms

2

Protein Name

Collagen alpha-1(XVII) chain

Molecular Mass

150419 Da

Amino Acid Count

1497

Genomic Location

chr10:104,031,286-104,085,880

Gene Map Locus
10q25.1

Description

COL17A1 gene encodes the alpha chain of  type XVII collagen. Collagen XVII is a transmembrane protein, which is an integral part of hemidesmosomes and contribute to the attachment of epidermis of skin to the underlying basement membrane.

Mutations in COL17A1 are associated with generalized atrophic benign epidermolysis bullosa (GABEB) and junctional epidermolysis bullosa.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000494.4:c.3676C>T Sudanchr10:104034711PathogenicPathogenicEpidermolysis Bullosa, Junctional 1A, IntermediateNG_007069.1:g.56170C>T; NM_000494.4:c.3676C>T ; NP_000485.3:p.Arg1226Ter12191276917645
NM_000494.4:c.3766+1G>APalestinechr10:104034620PathogenicEpidermolysis Bullosa, Junctional 1A, IntermediateNG_007069.1:g.56261G>A; NM_000494.4:c.3766+1G>A
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