1 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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0PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY✓ Swiss-Prot Reviewed
neurodegenerative diseasehypotrichosis simplexsmoking initiationAlopecia universalis
Based on limited published evidence, C19orf81 is a chromosome 19 open reading frame with unknown intrinsic function. It was identified as part of a 110 kb chr19 locus containing SYT3, CLEC11A, SHANK1, and C19orf81 that exhibits locus-specific histone H3K4 methylation alterations in KMT2D-haploinsufficient stem cell models 1. The gene's expression is coordinately regulated with neighboring genes through KMT2D-dependent mechanisms relevant to bone and brain development, though its specific molecular function remains undetermined.
1
C19orf81 is part of a locus showing locus-specific H3K4 methylation changes and coordinated gene expression alterations in KMT2D-haploinsufficient stem cells associated with Kabuki syndrome
PMID: 35640156⚠Limited data available — This gene has 1 indexed publication. Summary and analysis may be incomplete.
neurodegenerative diseaseOpen Targets
hypotrichosis simplexOpen Targets
smoking initiationOpen Targets
Alopecia universalisOpen Targets
Alopecia-intellectual disability syndromeOpen Targets
primary familial polycythemia due to EPO receptor mutationOpen Targets
uncombable hair syndromeOpen Targets
wooly hair, autosomal recessive 3Open Targets
hypotrichosis 4Open Targets
hypotrichosis 1Open Targets
hemolytic anemia due to diphosphoglycerate mutase deficiencyOpen Targets
alopecia universalis congenitaOpen Targets
Trichodysplasia - xerodermaOpen Targets
trichodysplasia-xeroderma syndromeOpen Targets
erythrocytosis, familial, 3Open Targets
erythrocytosis, familial, 6Open Targets
X-linked sideroblastic anemia 1Open Targets
Marie Unna hereditary hypotrichosisOpen Targets
hypotrichosis 14Open Targets
No pathogenic variants reported on ClinVar for this gene.