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SMARCAD1

From Wikipedia, the free encyclopedia
SMARCAD1
Identifiers
AliasesSMARCAD1, ADERM, ETL1, HEL1, SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1, BASNS, HRZ
External IDsOMIM: 612761; MGI: 95453; HomoloGene: 5301; GeneCards: SMARCAD1; OMA:SMARCAD1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001128429
NM_001128430
NM_001254949
NM_020159

NM_001253392
NM_007958
NM_001355248
NM_001355249
NM_001355250

RefSeq (protein)

NP_001240321
NP_031984
NP_001342177
NP_001342178
NP_001342179

Location (UCSC)Chr 4: 94.21 – 94.29 MbChr 6: 65.02 – 65.09 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 is a protein that in humans is encoded by the SMARCAD1 gene.[5][6]

Proper expression of SMARCAD1 may be important to fingerprint development,[7] and the disruption of its expression is believed to cause adermatoglyphia, the absence of fingerprints.

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000163104Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000029920Ensembl, 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. ^ Adra CN, Donato JL, Badovinac R, Syed F, Kheraj R, Cai H, Moran C, Kolker MT, Turner H, Weremowicz S, Shirakawa T, Morton CC, Schnipper LE, Drews R (Jan 2001). "SMARCAD1, a novel human helicase family-defining member associated with genetic instability: cloning, expression, and mapping to 4q22-q23, a band rich in breakpoints and deletion mutants involved in several human diseases". Genomics. 69 (2): 162–73. doi:10.1006/geno.2000.6281. PMID 11031099.
  6. ^ "Entrez Gene: SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1".
  7. ^ "The Mystery of the Missing Fingerprints".

Further reading

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