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HPS5

HPS5 biogenesis of lysosomal organelles complex 2 subunit 2

HCNC Approved Symbol
HPS5 (HGNC:17022)
Genomic Coordinates
11:18,278,670 - 18,322,174 (11p15.1)
Synonyms
BLOC2S2, AIBP63, RU2
Disease Associations
This gene is associated with the following 1 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Hermansky-Pudlak syndrome 5
614074AR

Diagnosed Cases

0Patient

There are no patients diagnosed with a variant in the HPS5 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

No Results