SMARCAD1

SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
Identifiers
Symbols SMARCAD1; DKFZp762K2015; ETL1; HEL1; KIAA1122
External IDs OMIM612761 MGI95453 HomoloGene5301 GeneCards: SMARCAD1 Gene
EC number 3.6.4.12
Orthologs
Species Human Mouse
Entrez 56916 13990
Ensembl ENSG00000163104 ENSMUSG00000029920
UniProt Q9H4L7 Q3UGK6
RefSeq (mRNA) NM_001128429.1 NM_007958.1
RefSeq (protein) NP_001121901.1 NP_031984.1
Location (UCSC) Chr 4:
95.13 – 95.21 Mb
Chr 6:
64.99 – 65.07 Mb
PubMed search [1] [2]

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". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=56916. 
  3. ^ ""The Mystery of the Missing Fingerprints". http://news.sciencemag.org/sciencenow/2011/08/the-mystery-of-the-missing-fingerprints.html. 

Further reading