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:

Nnat

Chromosome:

Human Chr20q11.2-q12
Mouse Chr2 (distal)

Links:

OMIM

Imprinting:

The maternal allele of Nnat is silenced; paternal allele active in mice and humans (Evans HK et al, 2001; Kagitani F et al, 1997; Kikyo N et al, 1997).

Gene Product:

Neuronatin is a transmembrane protein that is a member of the proteolipid-family. It is a neuronal protein characteristic of post-mitotic cells, with strongest expression in the perinatal period of CNS development (Joseph R et al, 1994; Joseph R et al, 1995; Wijnholds J et al, 1995). It is down-regulated on differentiation of PC12 cells into neurons, and in adult brain (Joseph R et al, 1996). Nnat protein shows some similarity to PMP1 and phospholamban, which function as regulatory subunits of ion channels.

Functional Data:

There is some circumstantial evidence from sub-regional UPDs in mice for the possible involvement of Nnat in cerebellar folding (Williamson CM et al, 1998; Kikyo N et al, 1997). The Nnat gene is distant from (proximal to) the Gnas1 locus, and is not likely to be part of the same imprinted domain (Williamson CM et al, 1998; Kikyo N et al, 1997).

 

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