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“Complementation Group-C Xeroderma Pigmentosa”, Victor McKusick, Mendelian Inheritance in Man, 1966. 補體C組色素性外皮。(XPC).

Here I present: Complementation Group-C Xeroderma Pigmentosa”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 補體C組色素性外皮。(XPC).

INTRODUCTION.

Xeroderma pigmentosum (XP) is a genetically heterogeneous condition characterized by increased sensitivity to ultraviolet radiation  (UV) and increased risk of skin cancer resulting from a defect in DNA repair. XPC (complementation-C XPis the most common form of XP in the white populations, accounting for over a third of all cases in this group.


Complementation Group-C Xeroderma Pigmentosum
(XPC), is a protein which in humans is encoded by the XPC gene.  XPC is involved in the recognition of bulky DNA adducts in nucleotide excision repair.  It is located on cytogenetic location 3p25.1 and genomic coordinates 3:14,145,147-14,178,601. The screenshot of the XPC gene 33,455 bp (base pairs) of DNA sequence length is shown BELOW.  Nine (9) other genes besides XPC in the 3p25.1 cytogenetic location are listed BENEATH.

Coordinate  Symbol  Genomic Name
3:13,816,258  WNT7A Wingless-type MMTV integration, member 7A
3:13,937,307  TPRXL Tetrapeptide repeat homeobox-like
3:14,112,077  CHDH4 Coiled-coil-helix-coiled-coil-helix protein 4
3:14,125,052  TMEM43 Transmembrane protein 43
3:14,145,147  XPC XPC complex subunit
3:14,178,817  LSM3 LSM3 protein
3:14,402,576  SLC6A6 Solute carrier family 6 member 6
3:14,651,762  CCDC174 Coiled-coil domain-containing protein 174
3:14,675,141  C3orf20 Chromosome 3 open reading frame 20
3:14,810,688  FGD5 FYVE, RhoGEF, and PH domain protein 5

 

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