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Semaphorins

Laboratory / DiagnosticsOMIM 601124
W
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Overview

From WUSTL Neuromuscular

Protein properties Gene family containing both transmembrane & secreted proteins ~750 amino acids Domains N-terminal signal peptide ~500 amino acid sema domain: Conserved regions ~15 cysteine residues N-linked glycosylation sites Ig (C2) domain: On secreted ± transmembrane proteins C-terminal region Secreted semaphorins: contain region of basic amino acids Transmembrane domain in transmembrane proteins Protein types Transmembrane semaphorins Sema I (fasciclin IV) (G, D & T forms) Peripheral axon guidance cue D-sema II Selective inhibitor of synaptic arborizations Sem B Sem C Secreted semaphori

OMIM Entries

OMIM #601124OMIM #601281OMIM #601923OMIM #601866

Related Conditions

Shared genes
CMYO13: Myopathy, Congenital, Bailey-Bloch
III
HEREDITARY ATAXIAS: DOMINANT
IIISPECTRINABC
Schwann Cell Development
IIIBBJUN

External Resources

WUSTL Neuromuscular
Washington University Disease Center
OMIM
Online Mendelian Inheritance in Man
PubMed
Biomedical Literature
GeneReviews
NCBI Expert-Authored Reviews
Orphanet
Portal for Rare Diseases
NORD
National Organization for Rare Disorders

Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.