Disease relevance of FAM46A

• Identification and characterization of C6orf37, a novel candidate human retinal disease gene on chromosome 6q14 [1].
• Identification of a novel VNTR polymorphism in C6orf37 and its association with colorectal cancer risk in Chinese population [2].
• BACKGROUND: C6orf37 was a gene up-regulated in colorectal adenoma in our previous study [2].

High impact information on FAM46A

• We have identified a novel human gene, chromosome 6 open reading frame 37 (C6orf37), that is expressed in the retina and maps to human chromosome 6q14, a genomic region that harbors multiple retinal disease loci [1].
• Additional sequence analysis predicts that the C6orf37 gene product is a soluble, globular cytoplasmic protein containing several conserved phosphorylation sites [1].
• The gene designated as C6orf37OS (C6orf37 Opposite Strand) and represented by these anti-sense transcripts contained no open reading frame [3].
• The transcripts from C6orf37 and C6orf37OS were observed in numerous tissues, with most-abundant expression in lung, kidney, and testis [3].
• METHODS: RT-PCR and sequencing were conducted to identify the variable region of C6orf37 as VNTR [2].

Analytical, diagnostic and therapeutic context of FAM46A

• Unexpectedly, RT-PCR analysis detected transcripts from the anti-sense DNA strand of this C6orf37 locus [3].

References