PTCHD4


Description

The PTCHD4 (patched domain containing 4) is a protein-coding gene located on chromosome 6.

Patched Domain-Containing Protein 4 (PTCHD4) is a protein encoded by the Patched Domain-Containing Protein 4 gene in humans. It is also known as PTCHD4, C6orf138, dj402H5.2, and has the accession number BC137364.

Homology

  • Orthologs: Distant orthologs of human PTCHD4 have been identified as far back as mold, showing 16% identity. Strict orthologs include boneless fish but not echinoderms, insects, or plants.
  • Paralogs: PTCHD4 has three other genes in its family: PTCHD1, PTCHD2, and PTCHD3, as well as the Niemann-Pick disease type C protein. These paralogs are less conserved than strict orthologs, suggesting they diverged long before speciation.

Gene

Human PTCHD4 is located on the negative strand of chromosome 6, at 6p12.3. It spans 190,350 base pairs, containing three exons and two introns.

Expression

PTCHD4 expression was detected in the brain, connective tissue, embryonic tissue, lungs, placenta, testis, trachea, and uterus, with the highest expression in the trachea.

PTCHD4 is also known as C6orf138, PTCH53, dJ402H5.2.

Associated Diseases



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