Gene: BTK

Alternate names for this Gene: AGMX1|AT|ATK|BPK|IGHD3|IMD1|PSCTK1|XLA

Gene Summary: The protein encoded by this gene plays a crucial role in B-cell development. Mutations in this gene cause X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. Alternative splicing results in multiple transcript variants encoding different isoforms.

Gene is located in Chromosome: X

Location in Chromosome : Xq22.1

Description of this Gene: Bruton tyrosine kinase

Type of Gene: protein-coding

Gene: TIMM8A

Alternate names for this Gene: DDP|DDP1|DFN1|MTS|TIM8

Gene Summary: This translocase is involved in the import and insertion of hydrophobic membrane proteins from the cytoplasm into the mitochondrial inner membrane. The gene is mutated in Mohr-Tranebjaerg syndrome/Deafness Dystonia Syndrome (MTS/DDS) and it is postulated that MTS/DDS is a mitochondrial disease caused by a defective mitochondrial protein import system. Defects in this gene also cause Jensen syndrome; an X-linked disease with opticoacoustic nerve atrophy and muscle weakness. This protein, along with TIMM13, forms a 70 kDa heterohexamer. Alternative splicing results in multiple transcript variants encoding distinct isoforms.

Gene is located in Chromosome: X

Location in Chromosome : Xq22.1

Description of this Gene: translocase of inner mitochondrial membrane 8A

Type of Gene: protein-coding

rs128622212 in BTK;TIMM8A gene and X-linked agammaglobulinemia PMID 9260159 1997 Molecular and structural characterization of five novel mutations in the Bruton's tyrosine kinase gene from patients with X-linked agammaglobulinemia.

PMID 7849721 1994 Unique mutations of Bruton's tyrosine kinase in fourteen unrelated X-linked agammaglobulinemia families.

PMID 8013627 1994 An exon-skipping mutation in the btk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency.

PMID 9016530 1997 BTKbase, mutation database for X-linked agammaglobulinemia (XLA)

PMID 7633429 1995 Mutation analysis in Bruton's tyrosine kinase, the X-linked agammaglobulinaemia gene, including identification of an insertional hotspot.

PMID 9280283 1997 Missense mutations affecting a conserved cysteine pair in the TH domain of Btk.

PMID 8695804 1996 Identification of Bruton's tyrosine kinase (Btk) gene mutations and characterization of the derived proteins in 35 X-linked agammaglobulinemia families: a nationwide study of Btk deficiency in Japan.

PMID 8834236 1996 Mutations of the Btk gene in 12 unrelated families with X-linked agammaglobulinemia in Japan.

PMID 9545398 1998 Mutations in btk in patients with presumed X-linked agammaglobulinemia.

PMID 8723128 1996 Detection of a novel mutation in the SRC homology domain 2 (SH2) of Bruton's tyrosine kinase and direct female carrier evaluation in a family with X-linked agammaglobulinemia.

PMID 7711734 1995 DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia.

PMID 7849697 1994 Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase.

PMID 8594569 1996 BTKbase, mutation database for X-linked agammaglobulinemia (XLA).

PMID 10612838 2000 Identification of nine novel mutations in the Bruton's tyrosine kinase gene in X-linked agammaglobulinaemia patients.

PMID 7849006 1995 Structural basis for pleckstrin homology domain mutations in X-linked agammaglobulinemia.

PMID 7897635 1995 A new point mutation involving a highly conserved leucine in the Btk SH2 domain in a family with X linked agammaglobulinaemia.

PMID 7633420 1995 Identification of Btk mutations in 20 unrelated patients with X-linked agammaglobulinaemia (XLA).

PMID 10678660 2000 Twin carriers of X-linked agammaglobulinemia (XLA) due to germline mutation in the Btk gene.

PMID 7627183 1995 Characterization of germline mutations of the gene encoding Bruton's tyrosine kinase in families with X-linked agammaglobulinemia.

PMID 10220140 1999 Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia.