SMARCAD1

SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
Identifiers
Symbols SMARCAD1 ; ADERM; ETL1; HEL1
External IDs OMIM: 612761 MGI: 95453 HomoloGene: 5301 GeneCards: SMARCAD1 Gene
EC number 3.6.4.12
Orthologs
Species Human Mouse
Entrez 56916 13990
Ensembl ENSG00000163104 ENSMUSG00000029920
UniProt Q9H4L7 Q04692
RefSeq (mRNA) NM_001128429 NM_001253392
RefSeq (protein) NP_001121901 NP_001240321
Location (UCSC) Chr 4:
94.21 – 94.29 Mb
Chr 6:
65.04 – 65.12 Mb
PubMed search

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.[1][2]

Proper expression of SMARCAD1 may be important to fingerprint development,[3] and the disruption of its expression is believed to cause adermatoglyphia, the absence of fingerprints.

References

  1. 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.
  2. "Entrez Gene: SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1".
  3. ""The Mystery of the Missing Fingerprints".

Further reading

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