MKKS

Description		McKusick-Kaufman syndrome
Image		No pdb structure
GO Annotations	Cellular Component	Nucleus Cytoplasm Centrosome Cytosol Motile Cilium Kinociliary Basal Body
	Molecular Function	RNA Polymerase II Repressing Transcription Factor Binding Protein Binding ATP Binding Unfolded Protein Binding
	Biological Process	Heart Looping Protein Folding Spermatid Development Determination Of Left/right Symmetry Heart Development Visual Perception Sensory Perception Of Smell Gonad Development Negative Regulation Of Gene Expression Artery Smooth Muscle Contraction Striatum Development Hippocampus Development Cerebral Cortex Development Negative Regulation Of Actin Filament Polymerization Melanosome Transport Developmental Process Negative Regulation Of GTPase Activity Social Behavior Negative Regulation Of Appetite By Leptin-mediated Signaling Pathway Positive Regulation Of Multicellular Organism Growth Vasodilation Fat Cell Differentiation Photoreceptor Cell Maintenance Negative Regulation Of Blood Pressure Intracellular Transport Brain Morphogenesis Detection Of Mechanical Stimulus Involved In Sensory Perception Of Sound Chaperone-mediated Protein Complex Assembly Cartilage Development Regulation Of Stress Fiber Assembly Pigment Granule Aggregation In Cell Center Convergent Extension Involved In Gastrulation Cilium Assembly Regulation Of Cilium Beat Frequency Involved In Ciliary Motility Face Development Non-motile Cilium Assembly
Pathways		BBSome-mediated cargo-targeting to cilium
Drugs
Diseases		46,XX disorders of sex development (Other), including: Mullerian aplasia and hyperandrogenism; McKusick-Kaufman syndrome Bardet-Biedl syndrome (BBS)
GWAS
Novel Interacting Genes		6 novel interacting genes: IL2RB LAMP5 PLCB4 PRSS2 SELENOP TMX4
Interacting Genes		4 interacting genes: APP CDR2 PTN ZBED1
Entrez ID		8195
HPRD ID		05356
Ensembl ID		ENSG00000125863
Uniprot IDs		B7Z3W9 Q9NPJ1
PDB IDs
Enriched GO Terms of Interacting Partners?
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