This allele comprises an 11 bp deletion that causes a frame shift that alters the C-terminal one third of the protein sequence. Expression and subcellular localization of the protein are not affected by this mutation. The mutation does affect the ability of the protein to form a complex with other lysosomal related proteins. (J:83960)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count