Alstrom syndrome Gene Set

Dataset WikiPathways Pathways 2024
Category structural or functional annotations
Type pathway
Description An autosomal recessive disease that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene. (Human Disease Ontology, DOID_0050473)
External Link https://www.wikipathways.org/pathways/WP5202.html
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Genes

34 proteins participating in the Alstrom syndrome pathway from the WikiPathways Pathways 2024 dataset.

Symbol Name
ACTN4 actinin, alpha 4
ALMS1 Alstrom syndrome protein 1
ARMCX5-GPRASP2 ARMCX5-GPRASP2 readthrough
BLOC1S1 biogenesis of lysosomal organelles complex-1, subunit 1
BLOC1S4 biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino
BLOC1S6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
CEP19 centrosomal protein 19kDa
CEP192 centrosomal protein 192kDa
DNM3 dynamin 3
DTNBP1 dystrobrevin binding protein 1
E2F4 E2F transcription factor 4, p107/p130-binding
GPR161 G protein-coupled receptor 161
GPRASP2 G protein-coupled receptor associated sorting protein 2
HSPB11 heat shock protein family B (small), member 11
IFT172 intraflagellar transport 172
IFT27 intraflagellar transport 27
IFT74 intraflagellar transport 74
IFT81 intraflagellar transport 81
MYO5B myosin VB
NSFL1C NSFL1 (p97) cofactor (p47)
PIFO primary cilia formation
PTCH1 patched 1
RABL2A RAB, member of RAS oncogene family-like 2A
RFX1 regulatory factor X, 1 (influences HLA class II expression)
RFX2 regulatory factor X, 2 (influences HLA class II expression)
RFX3 regulatory factor X, 3 (influences HLA class II expression)
RILPL1 Rab interacting lysosomal protein-like 1
SMO smoothened, frizzled class receptor
SNAPIN SNAP-associated protein
STX5 syntaxin 5
TFDP2 transcription factor Dp-2 (E2F dimerization partner 2)
TUBG1 tubulin, gamma 1
VCP valosin containing protein
VCPIP1 valosin containing protein (p97)/p47 complex interacting protein 1