Retina International's Scientific Newsletter

	Retina International's Scientific Newsletter
Editor's Notes from literature on Prominin (mouse)-like 1 (PROML1)

Recent update from: 03.01.2000

PROML1,

Notes

Differential N-glycosylation produces proteins of 104, 123 (eye), and 115 kDa (kidney)

Species: Homo sapiens

See also:

Chromosomal localisation	in man: 4p16
	in mouse:

Gene Data

Exons: 23

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE: 94 kDa
	calculated:

Reference: (1)

PROML1,

Notes

Preference for PM protrusions
Murine homologue prom is concentrated in the PM evaginations at the base of the OS of murine rods
60% AA identity to prom
Exon/Intron-boundaries
Rare cause of autosomal recessive retinal degeneration
Possible dysfunction on loss:
1. impaired generation of plasma membrane evaginations
2. impaired membrane remodelling on formation of a disk rim and closed disks
Markers: D4S1602- AFM212yg7- D4S2960- D4S1601- [PROML1, D4S3048]- D4S1567- D4S419- D4S230

Species: Homo sapiens

See also:

Chromosomal localisation	in man: 4p16
	in mouse:

Gene Data

Exons: 23

Primers: Mutated exon

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (1)

References:

1. Maw, M.A., Corbeil, D., Koch, J., Hellwig, A., Wilson-Wheeler, J.C., Bridges, R.J., Kumaramanickavel, G., John, S., Nancarrow, D., Röper, K., Weigmann, A., Huttner, W.B., and Denton, M.J. A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration. 2000; Hum.Mol.Genet. 9: 27 - 34.
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Contact the editor: irpamp@irpa.org	This site is maintained and edited by Dr. rer. medic. Markus Preising, Dipl.Biol. Molecular Genetics Laboratory Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics University of Regensburg Head: Prof. Dr. med. Birgit Lorenz