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Gene Review

FAM193A  -  family with sequence similarity 193, member A

Homo sapiens

Synonyms: C4orf8, Protein FAM193A, Protein IT14, RES4-22
 
 
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Psychiatry related information on C4orf8

  • Screening a human small intestinal library with human serum yielded a clone which encoded a protein res4-22 the gene of which was highly homologous to a recently described gene located in the Huntington's disease locus [1].
 

High impact information on C4orf8

  • Five distinct novel transcripts (RES4-22, -23, -24, -25 and -26) that mapped to the 1-Mb interval between D4S180 and D4S183 on human chromosome 4p16.3 close to the Huntington's disease (HD) gene were isolated, and the structure and exon/intron organization of each gene were thoroughly analyzed [2].
  • The transcripts of the RES4-22, -23 and -24 genes each have several isoforms by alternative splicing and these have also been defined [2].

References

  1. Neurological disease-associated autoantibodies against an unknown protein encoded by a RES4-22 homologous gene. Amin, M., Uhlig, H.H., Kamprad, M., Karbe, J., Osman, A.A., Grahmann, F., Hummelsheim, H., Mothes, T. Scand. J. Immunol. (2001) [Pubmed]
  2. The primary structure and genomic organization of five novel transcripts located close to the Huntington's disease gene on human chromosome 4p16.3. Hadano, S., Ishida, Y., Ikeda, J.E. DNA Res. (1998) [Pubmed]
 
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