ARV1 Homolog, Fatty Acid Homeostasis Modulator

Alternative Names

  • ARV1
  • ARV1, S. Cerevisiae, Homolog Of
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OMIM Number

611647

NCBI Gene ID

64801

Uniprot ID

Q9H2C2

Length

21,652 bases

No. of Exons

8

No. of isoforms

1

Protein Name

Protein ARV1

Molecular Mass

31052 Da

Amino Acid Count

271

Genomic Location

chr1:230,979,081-231,000,732

Gene Map Locus
1q42.2

Description

This gene encodes a transmembrane protein that contains a conserved zinc ribbon motif at the N- terminus. A similar protein in mouse is thought to function in fatty acid homeostasis. Mutations in this gene are associated with early infantile epileptic encephalopathy 38. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_022786.2:c.294+1G>ALebanonNC_000001.11:g.230988440G>APathogenicPathogenicDevelopmental And Epileptic Encephalopathy 38NG_052022.1:g.14392G>A; NM_022786.2:c.294+1G>A; NP_073623.1:p.Lys59_Asn98del 150619347224496
NM_022786.2:c.565G>ASaudi Arabiachr1:230995876Likely PathogenicLikely PathogenicDevelopmental And Epileptic Encephalopathy 38NG_052022.1:g.21828G>A; NM_022786.2:c.565G>A; NP_073623.1:p.Gly189Arg730882241183341
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