The detailed entries of the Imprinted Gene Catalogue database were created by Benjamin Tycko, Columbia University, New York and are updated by Ian Morison


 

Detailed entry for Gene:

ATP10C

Chromosome:

Human Chr15q11-q13
Mouse Chr7 (central)

Links:

OMIM

Imprinting:

Paternal allele silenced; maternal allele active in brain and lymphoblast cells. ATP10C maps within 200 kb distal to UBE3A and is imprinted in the same direction (Meguro M et al, 2001; Herzing LB et al, 2001). Imprinting data are from the human gene, but there is a mouse orthologue (Dhar M et al, 2000).

Gene Product:

ATP10C encodes an amino-phospholipid-transporting ATPase (Dhar M et al, 2000).

Functional Data:

ATP10C expression is absent from Angelman syndrome (AS) brain tissue. The significance of this for the AS phenotype (in non-UBE3A mutation cases) is not yet known. ATP10C is considered a candidate gene for Chr15q-linked autism.

 

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