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Results for the Protein: O60488
13432172

ACSL4_HUMAN RecName: Full=Long-chain-fatty-acid--CoA ligase 4; AltName: Full=Long-chain acyl-CoA synthetase 4; Short=LACS 4

Known Diseases associated with this Protein:
  MENTAL RETARDATION, X-LINKED 63
  MENTAL RETARDATION, X-LINKED 63 (MRX63)
  MENTAL RETARDATION, X-LINKED 68
3
1
2
0
2
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Default View:

CaiC - COG0318
FAA1 - COG1022
Acs - COG0365
AMP-binding - pfam00501


Swiss-Prot Protein: O60488
Identical to: NP_075266
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
FAA1COG10223e-13590711
AcsCOG03655e-0792683
AMP-bindingpfam005014.2e-110127603

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_036376Polymorphismp.ARG133CYSN/A
Swiss-ProtVAR_013180Diseasep.ARG570SERMental retardation, X-linked 63 (MRX63)
OMIM300157.0001 Diseasep.ARG529SERMENTAL RETARDATION, X-LINKED 63
OMIM300157.0003 Diseasep.PRO375LEUMENTAL RETARDATION, X-LINKED 68



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