Melanocortin 4 Receptor

Alternative Names

  • MC4R
  • MCR Receptor
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OMIM Number

155541

NCBI Gene ID

4160

Uniprot ID

P32245

Length

1,714 bases

No. of Exons

1

No. of isoforms

1

Protein Name

Melanocortin receptor 4

Molecular Mass

36943 Da

Amino Acid Count

332

Genomic Location

chr18:60,371,061-60,372,774

Gene Map Locus
18q21.32

Description

The protein encoded by this gene is a membrane-bound receptor and member of the melanocortin receptor family. The encoded protein interacts with adrenocorticotropic and MSH hormones and is mediated by G proteins. This is an intronless gene. Defects in this gene are a cause of autosomal dominant obesity. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_005912.3:c.485C>TUnited Arab EmiratesNC_000018.10:g.60371865G>APathogenic,Uncertain SignificanceBody Mass Index Quantitative Trait Locus 20NG_016441.1:g.5904C>T; NM_005912.3:c.485C>T; NP_005903.2:p.Thr162Ile1555691402499550
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