1 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
βGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
38PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLETransporter
DATA QUALITYβ Experimental GO Evidenceβ Swiss-Prot Reviewed
mitochondrionprotein import into mitochondrial matrixtransmembrane protein transporter activityTIM23 mitochondrial import inner membrane translocase complexneurodegenerative diseaseprostate carcinomaAlopecia universalishypotrichosis simplex
Based on limited published evidence, TIMM23B is a translocase component that may participate in translocation of transit peptide-containing proteins across the mitochondrial inner membrane as part of the PAM complex. TIMM23B functions in protein import into the mitochondrial matrix and likely serves as a transmembrane protein transporter within the TIM23 mitochondrial import inner membrane translocase complex 1. Expression of TIMM23B is regulated by the GABP transcription factor, suggesting its involvement in coordinating mitochondrial biogenesis with protein import capacity 1.
1
TIMM23B expression is regulated by GABP transcription factor; TIMM23B is a functional component of the TIM23 complex involved in preprotein translocation across mitochondrial inner membrane
PMID: 29413900β Limited data available β This gene has 1 indexed publication. Summary and analysis may be incomplete.
neurodegenerative diseaseOpen Targets
prostate carcinomaOpen Targets
Alopecia universalisOpen Targets
hypotrichosis simplexOpen Targets
Trichodysplasia - xerodermaOpen Targets
trichodysplasia-xeroderma syndromeOpen Targets
alopecia universalis congenitaOpen Targets
hypotrichosis 4Open Targets
uncombable hair syndromeOpen Targets
pure hair and nail ectodermal dysplasiaOpen Targets
hypotrichosis 5Open Targets
Clouston syndromeOpen Targets
posterior cortical atrophyOpen Targets
ulcerative colitisOpen Targets
IGA glomerulonephritisOpen Targets
Alzheimer diseaseOpen Targets
progressive supranuclear palsyOpen Targets
Parkinson diseaseOpen Targets
No pathogenic variants reported on ClinVar for this gene.