ROM1
Identifiers
AliasesROM1, ROM, ROSP1, RP7, TSPAN23, retinal outer segment membrane protein 1
External IDsOMIM: 180721 MGI: 97998 HomoloGene: 276 GeneCards: ROM1
Orthologs
SpeciesHumanMouse
Entrez

6094

19881

Ensembl

ENSG00000149489

ENSMUSG00000071648

UniProt

Q03395

P32958

RefSeq (mRNA)

NM_000327

NM_009073

RefSeq (protein)

NP_000318

NP_033099

Location (UCSC)Chr 11: 62.61 – 62.62 MbChr 19: 8.9 – 8.91 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Rod outer segment membrane protein 1 is a protein that in humans is encoded by the ROM1 gene.[5][6]

This gene is a member of a photoreceptor-specific gene family and encodes an integral membrane protein found in the photoreceptor disk rim of the eye. This protein can form homodimers or can heterodimerize with another photoreceptor protein, peripherin-2 (PRPH2; retinal degeneration, slow; RDS). It is essential for disk morphogenesis, and may also function as an adhesion molecule involved in the stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. Certain defects in this gene have been associated with the degenerative eye disease retinitis pigmentosa.[6]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000149489 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000071648 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Bascom RA, Schappert K, McInnes RR (Jul 1993). "Cloning of the human and murine ROM1 genes: genomic organization and sequence conservation". Hum Mol Genet. 2 (4): 385–391. doi:10.1093/hmg/2.4.385. PMID 8504299.
  6. 1 2 "Entrez Gene: ROM1 retinal outer segment membrane protein 1".

Further reading


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