2 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.
10PubMed Papers
17Diseases
0Drugs
1Pathogenic Variants
DATA QUALITYβ Experimental GO Evidenceβ Swiss-Prot Reviewed
protein bindingtRNA-splicing ligase complexshort rib-polydactyly syndrome, Majewski typeasphyxiating thoracic dystrophy 3autism spectrum disordercolorectal cancer
Based on limited published evidence, FAM98C is a protein with sequence similarity to family members FAM98A and FAM98B. It localizes to the tRNA-splicing ligase complex and exhibits protein binding capability. FAM98C was identified as a novel candidate gene in ciliopathy patients, with mutations associated with ciliary disorders 1. Recent functional studies demonstrate that FAM98C knockdown attenuates osteoclastogenesis in osteoclast precursors, suggesting a role in bone cell differentiation 2. However, its precise molecular mechanisms and physiological functions remain largely unknown.
1
FAM98C identified as novel candidate gene in ciliopathy patients with established links to ciliogenesis
PMID: 278943512
FAM98C knockdown attenuates osteoclastogenesis in osteoclast precursors
PMID: 39857276β Limited data available β This gene has 2 indexed publications. Summary and analysis may be incomplete.
asphyxiating thoracic dystrophy 3Open Targets
autism spectrum disorderOpen Targets
short rib-polydactyly syndrome, Majewski typeOpen Targets
colorectal cancerOpen Targets
cervical cancerOpen Targets
clear cell renal carcinomaOpen Targets
colon adenocarcinomaOpen Targets
colorectal adenocarcinomaOpen Targets
gastric cancerOpen Targets
hepatocellular carcinomaOpen Targets
Hereditary breast cancerOpen Targets
hereditary breast carcinomaOpen Targets
squamous cell lung carcinomaOpen Targets
thyroid cancer, nonmedullary, 1Open Targets
urinary bladder cancerOpen Targets
urinary bladder carcinomaOpen Targets
uterine corpus endometrial carcinomaOpen Targets
NM_174905.4(FAM98C):c.844C>T (p.Arg282Ter)Likely pathogenic
Asphyxiating thoracic dystrophy 3|Autism spectrum disorder
ββββ2023β Residue 282