SMARCAD1

SMARCAD1
Identifiers
Aliases SMARCAD1, ADERM, ETL1, HEL1, SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
External IDs MGI: 95453 HomoloGene: 5301 GeneCards: SMARCAD1
Orthologs
Species Human Mouse
Entrez

56916

13990

Ensembl

ENSG00000163104

ENSMUSG00000029920

UniProt

Q9H4L7

Q04692

RefSeq (mRNA)

NM_001128429
NM_001128430
NM_001254949
NM_020159

NM_001253392
NM_007958

RefSeq (protein)

NP_001121901.1
NP_001121902.1
NP_001241878.1
NP_064544.2

NP_001240321.1
NP_031984.1

Location (UCSC) Chr 4: 94.21 – 94.29 Mb Chr 6: 65.04 – 65.12 Mb
PubMed search [1] [2]
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.[3][4]

Proper expression of SMARCAD1 may be important to fingerprint development,[5] and the disruption of its expression is believed to cause adermatoglyphia, the absence of fingerprints.

References

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

Further reading


This article is issued from Wikipedia - version of the 6/3/2016. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.