Abstract:
:The gene mutated in chorea-acanthocytosis (CHAC; approved gene symbol VPS13A) encodes chorein, a protein similar to yeast Vps13p. We detected several similar putative human proteins by BLAST analysis of chorein. We characterized the structure of three new genes encoding these CHAC-similar proteins, located on chromosomes 1p36, 8q22, and 15q21. The most similar gene in yeast to all four human genes is Vps13, and therefore the human genes were named VPS13A (CHAC, 9q21), VPS13B (8q22), VPS13C (15q21), and VPS13D (1p36). VPS13B has recently been reported as COH1, altered in Cohen syndrome. For each gene, we describe several alternative splicing variants; at least two transcripts per gene are major forms. The expression pattern of these genes is ubiquitous, with some tissue-specific differences between several transcript variants. Protein sequence comparisons suggest that intramolecular duplications have played an important role in the evolution of this gene family.
journal_name
Genomicsjournal_title
Genomicsauthors
Velayos-Baeza A,Vettori A,Copley RR,Dobson-Stone C,Monaco APdoi
10.1016/j.ygeno.2004.04.012subject
Has Abstractpub_date
2004-09-01 00:00:00pages
536-49issue
3eissn
0888-7543issn
1089-8646pii
S0888754304001156journal_volume
84pub_type
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