Gene: [22q12/ADTB1] adaptin, beta 1 (beta prime); meningioma-associated locus BAM22; [BAM22 AP105A ]


GEN

The gene length: 100 kb (app.); exons: 22 (Peyrard-1996).

FUN

Adaptins are essential in dynamic processes of intracellular sorting, internalilization, and transport of membrane-spanning receptors via 'clathrin-coated-vesicles'."

MOP

AP1 coat assembly protein complex of clathrin-coated vesicles is a heterotetramer composed of 2 large components (beta-prime and gamma subunits: GEM:00.0/CLAPG1), a medium 47-kD component (GEM:08p11/CLAPM2), and a small 19-kD component (GEM:00.0/CLAPS1)."

CAG

Peyrard-1994 suggested that beta 1 adaptin is a meningioma candidate gene (GEM:22q11/MN1) and important to the neurofibromatosis type 2 (see GEM:22q122/NF2)."

REF

GEN,SEQ,EXP "Peyrard M &: Genomics, 36, 112-117, 1996
CLO,EXP,MUT "Peyrard M &: Hum Mol Genet, 3, 1393-1399, 1994
CLO,SEQ,GEN,LOC "Zucman-Rossi J &: Genomics, 38, N3, 247-254, 1996

KEY

neu, onc, mem

CLA

coding, basic

LOC

22 q12

MIM

MIM: 600157

SYN

BAM22 AP105A

Смотрите также:

  • Gene: [00.0/CLAPA1] clathrin-associated/assembly/adaptor protein, large, alpha 1 (100kD);
  • Gene: [00.0/ADTAA] adaptin, alpha A;
  • Gene: [00.0/CLAPS2] clathrin-associated/assembly/adaptor protein, small 2 (17kD); [AP17 ]