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Target intelligence / Profile preview
Sperm antigen with calponin homology and coiled-coil domains 1-like (SPECC1L)
- Target
- SPECC1L
- Molecular classification
- Other, Actin cytoskeletal protein
01
Overview
SPECC1L is a protein encoded by the sperm antigen with calponin homology and coiled-coil domains 1-like gene. It plays a critical role in actin-cytoskeletal reorganization, cell adhesion, migration, and spindle organization during cell division and is essential for craniofacial development, particularly facial morphogenesis. Mutations cause developmental syndromes such as oblique facial clefting-1 and Teebi hypertelorism syndrome 1. It is not currently a direct drug target and is most relevant in the context of developmental biology and human disease genetics.
- Other names
- CYTSAOBLFC1multiple deprecated identifiers
02
Mechanism of action
Not applicable
03
Biological functions
Actin-cytoskeletal organizationCell adhesionCell migrationCytokinesisSpindle organizationFacial morphogenesis
04
Disease associations
Facial clefting, oblique, 1Teebi hypertelorism syndrome 1craniofacial developmental disorders
05
Safety considerations
Not applicable for therapeutics, mutations cause developmental disorders
06
Interacting drugs
None known
07
Biomarkers
Facial clefting, oblique 1 (mutation screening)possible craniofacial developmental biomarkers
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