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FLNA - filamin A
- Synonym(s) : ABP-280, actin binding protein 280, alpha filamin
- Previous symbols and names : 'filamin A, alpha (actin binding protein 280)', FLN, FLN1, Filamin A, alpha (actin binding protein 280), OPD1, OPD2, filamin A, alpha
- Type : gene with protein product
- Chromosomal location : Xq28
- OMIM: 300017
- HGNC: 3754
- UniProtKB: P21333
- Genatlas: FLNA
- GenCC: FLNA
- Ensembl: ENSG00000196924
- IUPHAR-DB: -
- Reactome: P21333
- LOVD: FLNA
Diseases list
- Disease-causing germline mutation(s) in Congenital short bowel syndrome
ORPHA:2301 
- Disease-causing germline mutation(s) in FLNA-related X-linked myxomatous valvular dysplasia
ORPHA:555877 - Disease-causing germline mutation(s) in Neuronal intestinal pseudoobstruction
ORPHA:99811 - Disease-causing germline mutation(s) in NON RARE IN EUROPE: FG syndrome phenotypic spectrum
ORPHA:323 - Disease-causing germline mutation(s) in Terminal osseous dysplasia-pigmentary defects syndrome
ORPHA:88630 - Disease-causing germline mutation(s) (loss of function) in Periventricular nodular heterotopia
ORPHA:98892 - Disease-causing germline mutation(s) (loss of function) in X-linked Ehlers-Danlos syndrome
ORPHA:75497 - Disease-causing germline mutation(s) (loss of function) in X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome
ORPHA:482606 - Disease-causing germline mutation(s) (gain of function) in Frontometaphyseal dysplasia
ORPHA:1826 - Disease-causing germline mutation(s) (gain of function) in Melnick-Needles syndrome
ORPHA:2484 - Disease-causing germline mutation(s) (gain of function) in Otopalatodigital syndrome type 1
ORPHA:90650 - Disease-causing germline mutation(s) (gain of function) in Otopalatodigital syndrome type 2
ORPHA:90652
: AssessedAdditional information
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